Canonical Allele Identifier: CA375307259

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134385195G>C (hg19) ; chr9:g.131509808G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131509808G>C , CM000671.2:g.131509808G>C	GRCh38
NC_000009.11:g.134385195G>C , CM000671.1:g.134385195G>C	GRCh37
NC_000009.10:g.133375016G>C	NCBI36
NG_008896.1:g.11907G>C
NG_008896.2:g.11907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.443G>C	ENSP00000343034.7:p.Gly148Ala
ENST00000404875.7:n.714G>C
ENST00000423007.6:c.596G>C	ENSP00000404119.2:p.Gly199Ala
ENST00000462375.7:n.113-95G>C
ENST00000677295.2:c.*681G>C	ENSP00000504346.2:n.*681G>C
ENST00000678264.2:c.*788G>C	ENSP00000503157.2:n.*788G>C
ENST00000678942.2:c.300G>C	ENSP00000504690.2:p.Gly100=
ENST00000682070.1:n.802G>C
ENST00000682813.1:n.607G>C
ENST00000683134.1:c.66G>C
ENST00000683392.1:n.3089G>C
ENST00000683712.1:n.742G>C
ENST00000683900.1:n.1669G>C
ENST00000684062.1:n.914G>C
ENST00000684579.1:n.2183G>C
ENST00000341012.12:c.443G>C	ENSP00000343034.7:p.Gly148Ala
ENST00000372220.5:c.-145-2233G>C	ENSP00000361294.5:n.-145-2233G>C
ENST00000372228.9:c.605G>C	ENSP00000361302.3:p.Gly202Ala
ENST00000402686.8:c.605G>C MANE Select	ENSP00000385797.4:p.Gly202Ala
ENST00000415075.6:c.*250-549G>C	ENSP00000405149.2:n.*250-549G>C
ENST00000430619.2:c.149G>C	ENSP00000402083.2:p.Gly50Ala
ENST00000462375.6:n.429G>C
ENST00000676640.1:c.605G>C	ENSP00000503281.1:p.Gly202Ala
ENST00000676803.1:c.-126-452G>C	ENSP00000503093.1:n.-126-452G>C
ENST00000676835.1:c.189-452G>C	ENSP00000502911.1:n.189-452G>C
ENST00000676915.1:c.458G>C	ENSP00000504628.1:p.Gly153Ala
ENST00000677028.1:c.*52G>C	ENSP00000503896.1:n.*52G>C
ENST00000677029.1:c.149G>C	ENSP00000502936.1:p.Gly50Ala
ENST00000677099.1:c.*315G>C	ENSP00000504553.1:n.*315G>C
ENST00000677216.1:c.254G>C	ENSP00000503772.1:p.Gly85Ala
ENST00000677293.1:c.-29-549G>C	ENSP00000504278.1:n.-29-549G>C
ENST00000677295.1:c.443G>C	ENSP00000504346.1:p.Gly148Ala
ENST00000677444.1:c.148G>C
ENST00000677586.1:n.181-452G>C
ENST00000677626.1:c.443G>C	ENSP00000503552.1:p.Gly148Ala
ENST00000677677.1:n.565G>C
ENST00000677729.1:c.*52G>C	ENSP00000503581.1:n.*52G>C
ENST00000677853.1:c.378-549G>C	ENSP00000503488.1:n.378-549G>C
ENST00000677944.1:c.59-549G>C
ENST00000678264.1:c.605G>C	ENSP00000503157.1:p.Gly202Ala
ENST00000678303.1:c.515G>C	ENSP00000503696.1:p.Gly172Ala
ENST00000678366.1:c.*788G>C	ENSP00000504353.1:n.*788G>C
ENST00000678546.1:c.443G>C	ENSP00000503062.1:p.Gly148Ala
ENST00000678548.1:c.*315G>C	ENSP00000503934.1:n.*315G>C
ENST00000678626.1:n.297G>C
ENST00000678693.1:n.288G>C
ENST00000678707.1:n.243G>C
ENST00000678739.1:c.*663G>C	ENSP00000503806.1:n.*663G>C
ENST00000678833.1:c.*52G>C	ENSP00000503893.1:n.*52G>C
ENST00000679023.1:c.443G>C	ENSP00000503718.1:p.Gly148Ala
ENST00000679076.1:c.316G>C
ENST00000679111.1:c.605G>C	ENSP00000504257.1:p.Gly202Ala
ENST00000679189.1:c.254G>C	ENSP00000503356.1:p.Gly85Ala
ENST00000341012.11:c.443G>C	ENSP00000343034.7:p.Gly148Ala
ENST00000372228.7:c.605G>C	ENSP00000361302.3:p.Gly202Ala
ENST00000402686.7:c.605G>C	ENSP00000385797.3:p.Gly202Ala
ENST00000404875.6:c.254G>C	ENSP00000384531.2:p.Gly85Ala
ENST00000415075.5:c.189-549G>C	ENSP00000405149.1:n.189-549G>C
ENST00000423007.5:c.605G>C	ENSP00000404119.1:p.Gly202Ala
ENST00000430619.1:c.254G>C	ENSP00000402083.1:p.Gly85Ala
ENST00000441334.5:c.254G>C	ENSP00000395060.1:p.Gly85Ala
ENST00000448212.5:c.443G>C	ENSP00000403736.1:p.Gly148Ala
ENST00000462375.5:n.163G>C
NM_001077365.1:c.605G>C	NP_001070833.1:p.Gly202Ala
NM_001077366.1:c.443G>C	NP_001070834.1:p.Gly148Ala
NM_001136113.1:c.605G>C	NP_001129585.1:p.Gly202Ala
NM_001136114.1:c.254G>C	NP_001129586.1:p.Gly85Ala
NM_007171.3:c.605G>C	NP_009102.3:p.Gly202Ala
XM_005272156.1:c.605G>C	XP_005272213.1:p.Gly202Ala
XM_005272158.1:c.443G>C	XP_005272215.1:p.Gly148Ala
XM_005272159.1:c.254G>C	XP_005272216.1:p.Gly85Ala
XM_005272162.1:c.-795G>C	XP_005272219.1:n.-795G>C
XM_006716932.1:c.254G>C	XP_006716995.1:p.Gly85Ala
XM_011518140.1:c.458G>C	XP_011516442.1:p.Gly153Ala
XM_011518141.1:c.458G>C	XP_011516443.1:p.Gly153Ala
XM_011518142.1:c.296G>C	XP_011516444.1:p.Gly99Ala
XM_011518143.1:c.351G>C	XP_011516445.1:p.Gly117=
XM_011518144.1:c.605G>C	XP_011516446.1:p.Gly202Ala
XM_011518145.1:c.149G>C	XP_011516447.1:p.Gly50Ala
XM_011518146.1:c.351G>C	XP_011516448.1:p.Gly117=
XR_929703.1:n.781G>C
NM_001353193.1:c.605G>C	NP_001340122.1:p.Gly202Ala
NM_001353194.1:c.443G>C	NP_001340123.1:p.Gly148Ala
NM_001353195.1:c.254G>C	NP_001340124.1:p.Gly85Ala
NM_001353196.1:c.515G>C	NP_001340125.1:p.Gly172Ala
NM_001353197.1:c.443G>C	NP_001340126.1:p.Gly148Ala
NM_001353198.1:c.443G>C	NP_001340127.1:p.Gly148Ala
NM_001353199.1:c.254G>C	NP_001340128.1:p.Gly85Ala
NM_001353200.1:c.149G>C	NP_001340129.1:p.Gly50Ala
NR_148391.1:n.655G>C
NR_148392.1:n.807G>C
NR_148393.1:n.655G>C
NR_148394.1:n.543G>C
NR_148395.1:n.807G>C
NR_148396.1:n.436G>C
NR_148397.1:n.700G>C
NR_148398.1:n.655G>C
NR_148399.1:n.1047G>C
NR_148400.1:n.641G>C
XM_005272162.3:c.-795G>C	XP_005272219.1:n.-795G>C
XM_006716932.2:c.254G>C	XP_006716995.1:p.Gly85Ala
XM_011518140.2:c.458G>C	XP_011516442.1:p.Gly153Ala
XM_011518141.2:c.458G>C	XP_011516443.1:p.Gly153Ala
XM_011518142.2:c.296G>C	XP_011516444.1:p.Gly99Ala
XM_011518143.2:c.351G>C	XP_011516445.1:p.Gly117=
XM_011518145.2:c.149G>C	XP_011516447.1:p.Gly50Ala
XM_017014205.2:c.-598G>C	XP_016869694.1:n.-598G>C
XM_024447380.1:c.-532G>C	XP_024303148.1:n.-532G>C
XM_024447381.1:c.-484G>C	XP_024303149.1:n.-484G>C
XM_024447382.1:c.-795G>C	XP_024303150.1:n.-795G>C
XR_001746160.2:n.775G>C
XR_001746162.2:n.775G>C
XR_001746164.1:n.553G>C
XR_001746166.2:n.729G>C
NM_001077365.2:c.605G>C MANE Select	NP_001070833.1:p.Gly202Ala
NM_001077366.2:c.443G>C	NP_001070834.1:p.Gly148Ala
NM_001136113.2:c.605G>C	NP_001129585.1:p.Gly202Ala
NM_001136114.2:c.254G>C	NP_001129586.1:p.Gly85Ala
NM_001353193.2:c.605G>C	NP_001340122.2:p.Gly202Ala
NM_001353194.2:c.443G>C	NP_001340123.1:p.Gly148Ala
NM_001353195.2:c.254G>C	NP_001340124.1:p.Gly85Ala
NM_001353196.2:c.515G>C	NP_001340125.1:p.Gly172Ala
NM_001353197.2:c.443G>C	NP_001340126.2:p.Gly148Ala
NM_001353198.2:c.443G>C	NP_001340127.2:p.Gly148Ala
NM_001353199.2:c.254G>C	NP_001340128.2:p.Gly85Ala
NM_001353200.2:c.149G>C	NP_001340129.1:p.Gly50Ala
NM_001374689.1:c.443G>C	NP_001361618.1:p.Gly148Ala
NM_001374690.1:c.605G>C	NP_001361619.1:p.Gly202Ala
NM_001374691.1:c.254G>C	NP_001361620.1:p.Gly85Ala
NM_001374692.1:c.254G>C	NP_001361621.1:p.Gly85Ala
NM_001374693.1:c.443G>C	NP_001361622.1:p.Gly148Ala
NM_001374695.1:c.149G>C	NP_001361624.1:p.Gly50Ala
NM_007171.4:c.605G>C	NP_009102.4:p.Gly202Ala
NR_148391.2:n.639G>C
NR_148392.2:n.791G>C
NR_148393.2:n.639G>C
NR_148394.2:n.527G>C
NR_148395.2:n.791G>C
NR_148396.2:n.420G>C
NR_148397.2:n.684G>C
NR_148398.2:n.639G>C
NR_148399.2:n.1031G>C
NR_148400.2:n.625G>C