Canonical Allele Identifier: CA375308635

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134386825T>G (hg19) ; chr9:g.131511438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511438T>G , CM000671.2:g.131511438T>G	GRCh38
NC_000009.11:g.134386825T>G , CM000671.1:g.134386825T>G	GRCh37
NC_000009.10:g.133376646T>G	NCBI36
NG_008896.1:g.13537T>G
NG_008896.2:g.13537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.795T>G	ENSP00000343034.7:p.Leu265=
ENST00000404875.7:n.1329T>G
ENST00000423007.6:c.1014T>G	ENSP00000404119.2:p.Leu338=
ENST00000677295.2:c.*1296T>G	ENSP00000504346.2:n.*1296T>G
ENST00000678264.2:c.*1140T>G	ENSP00000503157.2:n.*1140T>G
ENST00000678942.2:c.*510T>G	ENSP00000504690.2:n.*510T>G
ENST00000682070.1:n.1417T>G
ENST00000682813.1:n.1222T>G
ENST00000683134.1:c.324T>G
ENST00000683392.1:n.3704T>G
ENST00000683712.1:n.1357T>G
ENST00000683900.1:n.2284T>G
ENST00000684062.1:n.1623T>G
ENST00000684579.1:n.2798T>G
ENST00000341012.12:c.795T>G	ENSP00000343034.7:p.Leu265=
ENST00000372220.5:c.-145-603T>G	ENSP00000361294.5:n.-145-603T>G
ENST00000372228.9:c.1023T>G	ENSP00000361302.3:p.Leu341=
ENST00000402686.8:c.957T>G MANE Select	ENSP00000385797.4:p.Leu319=
ENST00000415075.6:c.*410T>G	ENSP00000405149.2:n.*410T>G
ENST00000676640.1:c.957T>G	ENSP00000503281.1:p.Leu319=
ENST00000676803.1:c.132T>G	ENSP00000503093.1:p.Leu44=
ENST00000676835.1:c.*167T>G	ENSP00000502911.1:n.*167T>G
ENST00000677029.1:c.501T>G	ENSP00000502936.1:p.Leu167=
ENST00000677099.1:c.*667T>G	ENSP00000504553.1:n.*667T>G
ENST00000677216.1:c.606T>G	ENSP00000503772.1:p.Leu202=
ENST00000677293.1:c.132T>G	ENSP00000504278.1:p.Leu44=
ENST00000677295.1:c.*329T>G	ENSP00000504346.1:n.*329T>G
ENST00000677444.1:c.763T>G
ENST00000677586.1:n.438T>G
ENST00000677626.1:c.795T>G	ENSP00000503552.1:p.Leu265=
ENST00000677677.1:n.917T>G
ENST00000677853.1:c.538T>G	ENSP00000503488.1:p.Ser180Ala
ENST00000677944.1:c.219T>G
ENST00000678264.1:c.*329T>G	ENSP00000503157.1:n.*329T>G
ENST00000678303.1:c.867T>G	ENSP00000503696.1:p.Leu289=
ENST00000678366.1:c.*1206T>G	ENSP00000504353.1:n.*1206T>G
ENST00000678546.1:c.*329T>G	ENSP00000503062.1:n.*329T>G
ENST00000678548.1:c.*1024T>G	ENSP00000503934.1:n.*1024T>G
ENST00000678626.1:n.649T>G
ENST00000678733.1:c.131T>G
ENST00000678739.1:c.*1278T>G	ENSP00000503806.1:n.*1278T>G
ENST00000678833.1:c.*404T>G	ENSP00000503893.1:n.*404T>G
ENST00000678942.1:c.132T>G	ENSP00000504690.1:p.Leu44=
ENST00000679023.1:c.795T>G	ENSP00000503718.1:p.Leu265=
ENST00000679073.1:c.335T>G	ENSP00000504356.1:n.335T>G
ENST00000679076.1:c.571T>G
ENST00000679111.1:c.957T>G	ENSP00000504257.1:p.Leu319=
ENST00000679189.1:c.606T>G	ENSP00000503356.1:p.Leu202=
ENST00000341012.11:c.795T>G	ENSP00000343034.7:p.Leu265=
ENST00000372228.7:c.1023T>G	ENSP00000361302.3:p.Leu341=
ENST00000402686.7:c.957T>G	ENSP00000385797.3:p.Leu319=
ENST00000404875.6:c.606T>G	ENSP00000384531.2:p.Leu202=
ENST00000415075.5:c.349T>G	ENSP00000405149.1:p.Ser117Ala
ENST00000423007.5:c.957T>G	ENSP00000404119.1:p.Leu319=
ENST00000441334.5:c.672T>G	ENSP00000395060.1:p.Leu224=
ENST00000462375.5:n.778T>G
ENST00000485278.5:n.939T>G
NM_001077365.1:c.957T>G	NP_001070833.1:p.Leu319=
NM_001077366.1:c.795T>G	NP_001070834.1:p.Leu265=
NM_001136113.1:c.957T>G	NP_001129585.1:p.Leu319=
NM_001136114.1:c.606T>G	NP_001129586.1:p.Leu202=
NM_007171.3:c.1023T>G	NP_009102.3:p.Leu341=
XM_005272156.1:c.1023T>G	XP_005272213.1:p.Leu341=
XM_005272158.1:c.861T>G	XP_005272215.1:p.Leu287=
XM_005272159.1:c.672T>G	XP_005272216.1:p.Leu224=
XM_005272162.1:c.-180T>G	XP_005272219.1:n.-180T>G
XM_006716932.1:c.672T>G	XP_006716995.1:p.Leu224=
XM_011518140.1:c.876T>G	XP_011516442.1:p.Leu292=
XM_011518141.1:c.810T>G	XP_011516443.1:p.Leu270=
XM_011518142.1:c.714T>G	XP_011516444.1:p.Leu238=
XM_011518143.1:c.703T>G	XP_011516445.1:p.Ser235Ala
XM_011518144.1:c.1023T>G	XP_011516446.1:p.Leu341=
XM_011518145.1:c.567T>G	XP_011516447.1:p.Leu189=
XM_011518146.1:c.703T>G	XP_011516448.1:p.Ser235Ala
XR_929703.1:n.1199T>G
NM_001353193.1:c.1023T>G	NP_001340122.1:p.Leu341=
NM_001353194.1:c.795T>G	NP_001340123.1:p.Leu265=
NM_001353195.1:c.606T>G	NP_001340124.1:p.Leu202=
NM_001353196.1:c.867T>G	NP_001340125.1:p.Leu289=
NM_001353197.1:c.861T>G	NP_001340126.1:p.Leu287=
NM_001353198.1:c.861T>G	NP_001340127.1:p.Leu287=
NM_001353199.1:c.672T>G	NP_001340128.1:p.Leu224=
NM_001353200.1:c.501T>G	NP_001340129.1:p.Leu167=
NR_148391.1:n.1007T>G
NR_148392.1:n.1225T>G
NR_148393.1:n.1007T>G
NR_148394.1:n.895T>G
NR_148395.1:n.1159T>G
NR_148396.1:n.788T>G
NR_148397.1:n.1052T>G
NR_148398.1:n.1007T>G
NR_148399.1:n.1399T>G
NR_148400.1:n.993T>G
XM_005272162.3:c.-180T>G	XP_005272219.1:n.-180T>G
XM_006716932.2:c.672T>G	XP_006716995.1:p.Leu224=
XM_011518140.2:c.876T>G	XP_011516442.1:p.Leu292=
XM_011518141.2:c.810T>G	XP_011516443.1:p.Leu270=
XM_011518142.2:c.714T>G	XP_011516444.1:p.Leu238=
XM_011518143.2:c.703T>G	XP_011516445.1:p.Ser235Ala
XM_011518145.2:c.567T>G	XP_011516447.1:p.Leu189=
XM_017014205.2:c.-180T>G	XP_016869694.1:n.-180T>G
XM_024447380.1:c.-180T>G	XP_024303148.1:n.-180T>G
XM_024447381.1:c.132T>G	XP_024303149.1:p.Leu44=
XM_024447382.1:c.-180T>G	XP_024303150.1:n.-180T>G
XR_001746160.2:n.1127T>G
XR_001746162.2:n.1193T>G
XR_001746164.1:n.905T>G
XR_001746166.2:n.1344T>G
NM_001077365.2:c.957T>G MANE Select	NP_001070833.1:p.Leu319=
NM_001077366.2:c.795T>G	NP_001070834.1:p.Leu265=
NM_001136113.2:c.957T>G	NP_001129585.1:p.Leu319=
NM_001136114.2:c.606T>G	NP_001129586.1:p.Leu202=
NM_001353193.2:c.1023T>G	NP_001340122.2:p.Leu341=
NM_001353194.2:c.795T>G	NP_001340123.1:p.Leu265=
NM_001353195.2:c.606T>G	NP_001340124.1:p.Leu202=
NM_001353196.2:c.867T>G	NP_001340125.1:p.Leu289=
NM_001353197.2:c.861T>G	NP_001340126.2:p.Leu287=
NM_001353198.2:c.861T>G	NP_001340127.2:p.Leu287=
NM_001353199.2:c.672T>G	NP_001340128.2:p.Leu224=
NM_001353200.2:c.501T>G	NP_001340129.1:p.Leu167=
NM_001374689.1:c.940T>G	NP_001361618.1:p.Ser314Ala
NM_001374690.1:c.957T>G	NP_001361619.1:p.Leu319=
NM_001374691.1:c.606T>G	NP_001361620.1:p.Leu202=
NM_001374692.1:c.606T>G	NP_001361621.1:p.Leu202=
NM_001374693.1:c.795T>G	NP_001361622.1:p.Leu265=
NM_001374695.1:c.567T>G	NP_001361624.1:p.Leu189=
NM_007171.4:c.1023T>G	NP_009102.4:p.Leu341=
NR_148391.2:n.991T>G
NR_148392.2:n.1209T>G
NR_148393.2:n.991T>G
NR_148394.2:n.879T>G
NR_148395.2:n.1143T>G
NR_148396.2:n.772T>G
NR_148397.2:n.1036T>G
NR_148398.2:n.991T>G
NR_148399.2:n.1383T>G
NR_148400.2:n.977T>G