Canonical Allele Identifier: CA375314965

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522952-T-C
• MyVariant Identifiers: chr9:g.134398339T>C (hg19) ; chr9:g.131522952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522952T>C , CM000671.2:g.131522952T>C	GRCh38
NC_000009.11:g.134398339T>C , CM000671.1:g.134398339T>C	GRCh37
NC_000009.10:g.133388160T>C	NCBI36
NG_008896.1:g.25051T>C
NG_008896.2:g.25051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1862T>C	ENSP00000343034.7:p.Ile621Thr
ENST00000404875.7:n.2564T>C
ENST00000423007.6:c.2081T>C	ENSP00000404119.2:p.Ile694Thr
ENST00000677295.2:c.*2368T>C	ENSP00000504346.2:n.*2368T>C
ENST00000678264.2:c.*2207T>C	ENSP00000503157.2:n.*2207T>C
ENST00000682070.1:n.2334T>C
ENST00000682639.1:c.21T>C
ENST00000682813.1:n.2421T>C
ENST00000683231.1:c.21T>C
ENST00000683392.1:n.4616T>C
ENST00000683712.1:n.2429T>C
ENST00000683900.1:n.3924T>C
ENST00000684062.1:n.2690T>C
ENST00000684399.1:c.21T>C
ENST00000684579.1:n.3870T>C
ENST00000341012.12:c.1862T>C	ENSP00000343034.7:p.Ile621Thr
ENST00000372220.5:c.893T>C	ENSP00000361294.5:p.Ile298Thr
ENST00000372228.9:c.2090T>C	ENSP00000361302.3:p.Ile697Thr
ENST00000402686.8:c.2024T>C MANE Select	ENSP00000385797.4:p.Ile675Thr
ENST00000676640.1:c.2024T>C	ENSP00000503281.1:p.Ile675Thr
ENST00000676803.1:c.1085T>C	ENSP00000503093.1:p.Ile362Thr
ENST00000676835.1:c.*1239T>C	ENSP00000502911.1:n.*1239T>C
ENST00000677029.1:c.1568T>C	ENSP00000502936.1:p.Ile523Thr
ENST00000677099.1:c.*1734T>C	ENSP00000504553.1:n.*1734T>C
ENST00000677216.1:c.1673T>C	ENSP00000503772.1:p.Ile558Thr
ENST00000677221.1:n.1049T>C
ENST00000677295.1:c.*1246T>C	ENSP00000504346.1:n.*1246T>C
ENST00000677444.1:c.1969T>C
ENST00000677586.1:n.1391T>C
ENST00000677626.1:c.1673T>C	ENSP00000503552.1:p.Ile558Thr
ENST00000677853.1:c.*1032T>C	ENSP00000503488.1:n.*1032T>C
ENST00000678264.1:c.*1401T>C	ENSP00000503157.1:n.*1401T>C
ENST00000678303.1:c.1934T>C	ENSP00000503696.1:p.Ile645Thr
ENST00000678366.1:c.*2273T>C	ENSP00000504353.1:n.*2273T>C
ENST00000678546.1:c.*1969T>C	ENSP00000503062.1:n.*1969T>C
ENST00000678548.1:c.*2163T>C	ENSP00000503934.1:n.*2163T>C
ENST00000678626.1:n.1860T>C
ENST00000678739.1:c.*2190T>C	ENSP00000503806.1:n.*2190T>C
ENST00000678833.1:c.*1776T>C	ENSP00000503893.1:n.*1776T>C
ENST00000679023.1:c.1862T>C	ENSP00000503718.1:p.Ile621Thr
ENST00000679076.1:c.1643T>C
ENST00000679111.1:c.*780T>C	ENSP00000504257.1:n.*780T>C
ENST00000679189.1:c.1673T>C	ENSP00000503356.1:p.Ile558Thr
ENST00000341012.11:c.1862T>C	ENSP00000343034.7:p.Ile621Thr
ENST00000372220.4:c.887T>C	ENSP00000361294.4:p.Ile296Thr
ENST00000372228.7:c.2090T>C	ENSP00000361302.3:p.Ile697Thr
ENST00000402686.7:c.2024T>C	ENSP00000385797.3:p.Ile675Thr
ENST00000404875.6:c.1673T>C	ENSP00000384531.2:p.Ile558Thr
ENST00000423007.5:c.2024T>C	ENSP00000404119.1:p.Ile675Thr
ENST00000485278.5:n.2574T>C
NM_001077365.1:c.2024T>C	NP_001070833.1:p.Ile675Thr
NM_001077366.1:c.1862T>C	NP_001070834.1:p.Ile621Thr
NM_001136113.1:c.2024T>C	NP_001129585.1:p.Ile675Thr
NM_001136114.1:c.1673T>C	NP_001129586.1:p.Ile558Thr
NM_007171.3:c.2090T>C	NP_009102.3:p.Ile697Thr
XM_005272156.1:c.2090T>C	XP_005272213.1:p.Ile697Thr
XM_005272158.1:c.1928T>C	XP_005272215.1:p.Ile643Thr
XM_005272159.1:c.1739T>C	XP_005272216.1:p.Ile580Thr
XM_005272162.1:c.893T>C	XP_005272219.1:p.Ile298Thr
XM_006716932.1:c.1739T>C	XP_006716995.1:p.Ile580Thr
XM_011518140.1:c.1943T>C	XP_011516442.1:p.Ile648Thr
XM_011518141.1:c.1877T>C	XP_011516443.1:p.Ile626Thr
XM_011518142.1:c.1781T>C	XP_011516444.1:p.Ile594Thr
XM_011518143.1:c.1775T>C	XP_011516445.1:p.Ile592Thr
XM_011518145.1:c.1634T>C	XP_011516447.1:p.Ile545Thr
XM_011518147.1:c.962T>C	XP_011516449.1:p.Ile321Thr
XR_929703.1:n.2266T>C
NM_001353193.1:c.2090T>C	NP_001340122.1:p.Ile697Thr
NM_001353194.1:c.1862T>C	NP_001340123.1:p.Ile621Thr
NM_001353195.1:c.1673T>C	NP_001340124.1:p.Ile558Thr
NM_001353196.1:c.1934T>C	NP_001340125.1:p.Ile645Thr
NM_001353197.1:c.1928T>C	NP_001340126.1:p.Ile643Thr
NM_001353198.1:c.1928T>C	NP_001340127.1:p.Ile643Thr
NM_001353199.1:c.1739T>C	NP_001340128.1:p.Ile580Thr
NM_001353200.1:c.1568T>C	NP_001340129.1:p.Ile523Thr
NR_148391.1:n.2074T>C
NR_148392.1:n.2292T>C
NR_148393.1:n.2213T>C
NR_148394.1:n.1967T>C
NR_148395.1:n.2365T>C
NR_148396.1:n.1999T>C
NR_148397.1:n.2124T>C
NR_148398.1:n.2079T>C
NR_148399.1:n.2605T>C
NR_148400.1:n.2204T>C
XM_005272162.3:c.893T>C	XP_005272219.1:p.Ile298Thr
XM_006716932.2:c.1739T>C	XP_006716995.1:p.Ile580Thr
XM_011518140.2:c.1943T>C	XP_011516442.1:p.Ile648Thr
XM_011518141.2:c.1877T>C	XP_011516443.1:p.Ile626Thr
XM_011518142.2:c.1781T>C	XP_011516444.1:p.Ile594Thr
XM_011518143.2:c.1775T>C	XP_011516445.1:p.Ile592Thr
XM_011518145.2:c.1634T>C	XP_011516447.1:p.Ile545Thr
XM_017014205.2:c.893T>C	XP_016869694.1:p.Ile298Thr
XM_024447380.1:c.893T>C	XP_024303148.1:p.Ile298Thr
XM_024447381.1:c.1199T>C	XP_024303149.1:p.Ile400Thr
XM_024447382.1:c.893T>C	XP_024303150.1:p.Ile298Thr
XR_001746160.2:n.2194T>C
XR_001746162.2:n.2399T>C
XR_001746164.1:n.2116T>C
XR_001746166.2:n.2411T>C
NM_001077365.2:c.2024T>C MANE Select	NP_001070833.1:p.Ile675Thr
NM_001077366.2:c.1862T>C	NP_001070834.1:p.Ile621Thr
NM_001136113.2:c.2024T>C	NP_001129585.1:p.Ile675Thr
NM_001136114.2:c.1673T>C	NP_001129586.1:p.Ile558Thr
NM_001353193.2:c.2090T>C	NP_001340122.2:p.Ile697Thr
NM_001353194.2:c.1862T>C	NP_001340123.1:p.Ile621Thr
NM_001353195.2:c.1673T>C	NP_001340124.1:p.Ile558Thr
NM_001353196.2:c.1934T>C	NP_001340125.1:p.Ile645Thr
NM_001353197.2:c.1928T>C	NP_001340126.2:p.Ile643Thr
NM_001353198.2:c.1928T>C	NP_001340127.2:p.Ile643Thr
NM_001353199.2:c.1739T>C	NP_001340128.2:p.Ile580Thr
NM_001353200.2:c.1568T>C	NP_001340129.1:p.Ile523Thr
NM_001374689.1:c.2012T>C	NP_001361618.1:p.Ile671Thr
NM_001374690.1:c.1805T>C	NP_001361619.1:p.Ile602Thr
NM_001374691.1:c.1673T>C	NP_001361620.1:p.Ile558Thr
NM_001374692.1:c.1673T>C	NP_001361621.1:p.Ile558Thr
NM_001374693.1:c.1673T>C	NP_001361622.1:p.Ile558Thr
NM_001374695.1:c.1634T>C	NP_001361624.1:p.Ile545Thr
NM_007171.4:c.2090T>C	NP_009102.4:p.Ile697Thr
NR_148391.2:n.2058T>C
NR_148392.2:n.2276T>C
NR_148393.2:n.2197T>C
NR_148394.2:n.1951T>C
NR_148395.2:n.2349T>C
NR_148396.2:n.1983T>C
NR_148397.2:n.2108T>C
NR_148398.2:n.2063T>C
NR_148399.2:n.2589T>C
NR_148400.2:n.2188T>C