Canonical Allele Identifier: CA375307251

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134385191G>C (hg19) ; chr9:g.131509804G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131509804G>C , CM000671.2:g.131509804G>C	GRCh38
NC_000009.11:g.134385191G>C , CM000671.1:g.134385191G>C	GRCh37
NC_000009.10:g.133375012G>C	NCBI36
NG_008896.1:g.11903G>C
NG_008896.2:g.11903G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.439G>C	ENSP00000343034.7:p.Val147Leu
ENST00000404875.7:n.710G>C
ENST00000423007.6:c.592G>C	ENSP00000404119.2:p.Val198Leu
ENST00000462375.7:n.113-99G>C
ENST00000677295.2:c.*677G>C	ENSP00000504346.2:n.*677G>C
ENST00000678264.2:c.*784G>C	ENSP00000503157.2:n.*784G>C
ENST00000678942.2:c.296G>C	ENSP00000504690.2:p.Ser99Thr
ENST00000682070.1:n.798G>C
ENST00000682813.1:n.603G>C
ENST00000683134.1:c.62G>C
ENST00000683392.1:n.3085G>C
ENST00000683712.1:n.738G>C
ENST00000683900.1:n.1665G>C
ENST00000684062.1:n.910G>C
ENST00000684579.1:n.2179G>C
ENST00000341012.12:c.439G>C	ENSP00000343034.7:p.Val147Leu
ENST00000372220.5:c.-145-2237G>C	ENSP00000361294.5:n.-145-2237G>C
ENST00000372228.9:c.601G>C	ENSP00000361302.3:p.Val201Leu
ENST00000402686.8:c.601G>C MANE Select	ENSP00000385797.4:p.Val201Leu
ENST00000415075.6:c.*250-553G>C	ENSP00000405149.2:n.*250-553G>C
ENST00000430619.2:c.145G>C	ENSP00000402083.2:p.Val49Leu
ENST00000462375.6:n.425G>C
ENST00000676640.1:c.601G>C	ENSP00000503281.1:p.Val201Leu
ENST00000676803.1:c.-126-456G>C	ENSP00000503093.1:n.-126-456G>C
ENST00000676835.1:c.189-456G>C	ENSP00000502911.1:n.189-456G>C
ENST00000676915.1:c.454G>C	ENSP00000504628.1:p.Val152Leu
ENST00000677028.1:c.*48G>C	ENSP00000503896.1:n.*48G>C
ENST00000677029.1:c.145G>C	ENSP00000502936.1:p.Val49Leu
ENST00000677099.1:c.*311G>C	ENSP00000504553.1:n.*311G>C
ENST00000677216.1:c.250G>C	ENSP00000503772.1:p.Val84Leu
ENST00000677293.1:c.-29-553G>C	ENSP00000504278.1:n.-29-553G>C
ENST00000677295.1:c.439G>C	ENSP00000504346.1:p.Val147Leu
ENST00000677444.1:c.144G>C
ENST00000677586.1:n.181-456G>C
ENST00000677626.1:c.439G>C	ENSP00000503552.1:p.Val147Leu
ENST00000677677.1:n.561G>C
ENST00000677729.1:c.*48G>C	ENSP00000503581.1:n.*48G>C
ENST00000677853.1:c.378-553G>C	ENSP00000503488.1:n.378-553G>C
ENST00000677944.1:c.59-553G>C
ENST00000678264.1:c.601G>C	ENSP00000503157.1:p.Val201Leu
ENST00000678303.1:c.511G>C	ENSP00000503696.1:p.Val171Leu
ENST00000678366.1:c.*784G>C	ENSP00000504353.1:n.*784G>C
ENST00000678546.1:c.439G>C	ENSP00000503062.1:p.Val147Leu
ENST00000678548.1:c.*311G>C	ENSP00000503934.1:n.*311G>C
ENST00000678626.1:n.293G>C
ENST00000678693.1:n.284G>C
ENST00000678707.1:n.239G>C
ENST00000678739.1:c.*659G>C	ENSP00000503806.1:n.*659G>C
ENST00000678833.1:c.*48G>C	ENSP00000503893.1:n.*48G>C
ENST00000679023.1:c.439G>C	ENSP00000503718.1:p.Val147Leu
ENST00000679076.1:c.312G>C
ENST00000679111.1:c.601G>C	ENSP00000504257.1:p.Val201Leu
ENST00000679189.1:c.250G>C	ENSP00000503356.1:p.Val84Leu
ENST00000341012.11:c.439G>C	ENSP00000343034.7:p.Val147Leu
ENST00000372228.7:c.601G>C	ENSP00000361302.3:p.Val201Leu
ENST00000402686.7:c.601G>C	ENSP00000385797.3:p.Val201Leu
ENST00000404875.6:c.250G>C	ENSP00000384531.2:p.Val84Leu
ENST00000415075.5:c.189-553G>C	ENSP00000405149.1:n.189-553G>C
ENST00000423007.5:c.601G>C	ENSP00000404119.1:p.Val201Leu
ENST00000430619.1:c.250G>C	ENSP00000402083.1:p.Val84Leu
ENST00000441334.5:c.250G>C	ENSP00000395060.1:p.Val84Leu
ENST00000448212.5:c.439G>C	ENSP00000403736.1:p.Val147Leu
ENST00000462375.5:n.159G>C
NM_001077365.1:c.601G>C	NP_001070833.1:p.Val201Leu
NM_001077366.1:c.439G>C	NP_001070834.1:p.Val147Leu
NM_001136113.1:c.601G>C	NP_001129585.1:p.Val201Leu
NM_001136114.1:c.250G>C	NP_001129586.1:p.Val84Leu
NM_007171.3:c.601G>C	NP_009102.3:p.Val201Leu
XM_005272156.1:c.601G>C	XP_005272213.1:p.Val201Leu
XM_005272158.1:c.439G>C	XP_005272215.1:p.Val147Leu
XM_005272159.1:c.250G>C	XP_005272216.1:p.Val84Leu
XM_005272162.1:c.-799G>C	XP_005272219.1:n.-799G>C
XM_006716932.1:c.250G>C	XP_006716995.1:p.Val84Leu
XM_011518140.1:c.454G>C	XP_011516442.1:p.Val152Leu
XM_011518141.1:c.454G>C	XP_011516443.1:p.Val152Leu
XM_011518142.1:c.292G>C	XP_011516444.1:p.Val98Leu
XM_011518143.1:c.347G>C	XP_011516445.1:p.Ser116Thr
XM_011518144.1:c.601G>C	XP_011516446.1:p.Val201Leu
XM_011518145.1:c.145G>C	XP_011516447.1:p.Val49Leu
XM_011518146.1:c.347G>C	XP_011516448.1:p.Ser116Thr
XR_929703.1:n.777G>C
NM_001353193.1:c.601G>C	NP_001340122.1:p.Val201Leu
NM_001353194.1:c.439G>C	NP_001340123.1:p.Val147Leu
NM_001353195.1:c.250G>C	NP_001340124.1:p.Val84Leu
NM_001353196.1:c.511G>C	NP_001340125.1:p.Val171Leu
NM_001353197.1:c.439G>C	NP_001340126.1:p.Val147Leu
NM_001353198.1:c.439G>C	NP_001340127.1:p.Val147Leu
NM_001353199.1:c.250G>C	NP_001340128.1:p.Val84Leu
NM_001353200.1:c.145G>C	NP_001340129.1:p.Val49Leu
NR_148391.1:n.651G>C
NR_148392.1:n.803G>C
NR_148393.1:n.651G>C
NR_148394.1:n.539G>C
NR_148395.1:n.803G>C
NR_148396.1:n.432G>C
NR_148397.1:n.696G>C
NR_148398.1:n.651G>C
NR_148399.1:n.1043G>C
NR_148400.1:n.637G>C
XM_005272162.3:c.-799G>C	XP_005272219.1:n.-799G>C
XM_006716932.2:c.250G>C	XP_006716995.1:p.Val84Leu
XM_011518140.2:c.454G>C	XP_011516442.1:p.Val152Leu
XM_011518141.2:c.454G>C	XP_011516443.1:p.Val152Leu
XM_011518142.2:c.292G>C	XP_011516444.1:p.Val98Leu
XM_011518143.2:c.347G>C	XP_011516445.1:p.Ser116Thr
XM_011518145.2:c.145G>C	XP_011516447.1:p.Val49Leu
XM_017014205.2:c.-602G>C	XP_016869694.1:n.-602G>C
XM_024447380.1:c.-536G>C	XP_024303148.1:n.-536G>C
XM_024447381.1:c.-488G>C	XP_024303149.1:n.-488G>C
XM_024447382.1:c.-799G>C	XP_024303150.1:n.-799G>C
XR_001746160.2:n.771G>C
XR_001746162.2:n.771G>C
XR_001746164.1:n.549G>C
XR_001746166.2:n.725G>C
NM_001077365.2:c.601G>C MANE Select	NP_001070833.1:p.Val201Leu
NM_001077366.2:c.439G>C	NP_001070834.1:p.Val147Leu
NM_001136113.2:c.601G>C	NP_001129585.1:p.Val201Leu
NM_001136114.2:c.250G>C	NP_001129586.1:p.Val84Leu
NM_001353193.2:c.601G>C	NP_001340122.2:p.Val201Leu
NM_001353194.2:c.439G>C	NP_001340123.1:p.Val147Leu
NM_001353195.2:c.250G>C	NP_001340124.1:p.Val84Leu
NM_001353196.2:c.511G>C	NP_001340125.1:p.Val171Leu
NM_001353197.2:c.439G>C	NP_001340126.2:p.Val147Leu
NM_001353198.2:c.439G>C	NP_001340127.2:p.Val147Leu
NM_001353199.2:c.250G>C	NP_001340128.2:p.Val84Leu
NM_001353200.2:c.145G>C	NP_001340129.1:p.Val49Leu
NM_001374689.1:c.439G>C	NP_001361618.1:p.Val147Leu
NM_001374690.1:c.601G>C	NP_001361619.1:p.Val201Leu
NM_001374691.1:c.250G>C	NP_001361620.1:p.Val84Leu
NM_001374692.1:c.250G>C	NP_001361621.1:p.Val84Leu
NM_001374693.1:c.439G>C	NP_001361622.1:p.Val147Leu
NM_001374695.1:c.145G>C	NP_001361624.1:p.Val49Leu
NM_007171.4:c.601G>C	NP_009102.4:p.Val201Leu
NR_148391.2:n.635G>C
NR_148392.2:n.787G>C
NR_148393.2:n.635G>C
NR_148394.2:n.523G>C
NR_148395.2:n.787G>C
NR_148396.2:n.416G>C
NR_148397.2:n.680G>C
NR_148398.2:n.635G>C
NR_148399.2:n.1027G>C
NR_148400.2:n.621G>C