Canonical Allele Identifier: CA375315074

Gene: POMT1

Linked Data

• dbSNP Id: rs1588513928
• MyVariant Identifiers: chr9:g.134398368T>G (hg19) ; chr9:g.131522981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522981T>G , CM000671.2:g.131522981T>G	GRCh38
NC_000009.11:g.134398368T>G , CM000671.1:g.134398368T>G	GRCh37
NC_000009.10:g.133388189T>G	NCBI36
NG_008896.1:g.25080T>G
NG_008896.2:g.25080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1891T>G	ENSP00000343034.7:p.Ser631Ala
ENST00000404875.7:n.2593T>G
ENST00000423007.6:c.2110T>G	ENSP00000404119.2:p.Ser704Ala
ENST00000677295.2:c.*2397T>G	ENSP00000504346.2:n.*2397T>G
ENST00000678264.2:c.*2236T>G	ENSP00000503157.2:n.*2236T>G
ENST00000682070.1:n.2363T>G
ENST00000682639.1:c.50T>G
ENST00000682813.1:n.2450T>G
ENST00000683231.1:c.50T>G
ENST00000683392.1:n.4645T>G
ENST00000683712.1:n.2458T>G
ENST00000683900.1:n.3953T>G
ENST00000684062.1:n.2719T>G
ENST00000684399.1:c.50T>G
ENST00000684579.1:n.3899T>G
ENST00000341012.12:c.1891T>G	ENSP00000343034.7:p.Ser631Ala
ENST00000372220.5:c.922T>G	ENSP00000361294.5:p.Ser308Ala
ENST00000372228.9:c.2119T>G	ENSP00000361302.3:p.Ser707Ala
ENST00000402686.8:c.2053T>G MANE Select	ENSP00000385797.4:p.Ser685Ala
ENST00000676640.1:c.2053T>G	ENSP00000503281.1:p.Ser685Ala
ENST00000676803.1:c.1114T>G	ENSP00000503093.1:p.Ser372Ala
ENST00000676835.1:c.*1268T>G	ENSP00000502911.1:n.*1268T>G
ENST00000677029.1:c.1597T>G	ENSP00000502936.1:p.Ser533Ala
ENST00000677099.1:c.*1763T>G	ENSP00000504553.1:n.*1763T>G
ENST00000677216.1:c.1702T>G	ENSP00000503772.1:p.Ser568Ala
ENST00000677221.1:n.1078T>G
ENST00000677295.1:c.*1275T>G	ENSP00000504346.1:n.*1275T>G
ENST00000677444.1:c.1998T>G
ENST00000677586.1:n.1420T>G
ENST00000677626.1:c.1702T>G	ENSP00000503552.1:p.Ser568Ala
ENST00000677853.1:c.*1061T>G	ENSP00000503488.1:n.*1061T>G
ENST00000678264.1:c.*1430T>G	ENSP00000503157.1:n.*1430T>G
ENST00000678303.1:c.1963T>G	ENSP00000503696.1:p.Ser655Ala
ENST00000678366.1:c.*2302T>G	ENSP00000504353.1:n.*2302T>G
ENST00000678546.1:c.*1998T>G	ENSP00000503062.1:n.*1998T>G
ENST00000678548.1:c.*2192T>G	ENSP00000503934.1:n.*2192T>G
ENST00000678626.1:n.1889T>G
ENST00000678739.1:c.*2219T>G	ENSP00000503806.1:n.*2219T>G
ENST00000678833.1:c.*1805T>G	ENSP00000503893.1:n.*1805T>G
ENST00000679023.1:c.1891T>G	ENSP00000503718.1:p.Ser631Ala
ENST00000679076.1:c.1672T>G
ENST00000679111.1:c.*809T>G	ENSP00000504257.1:n.*809T>G
ENST00000679189.1:c.1702T>G	ENSP00000503356.1:p.Ser568Ala
ENST00000341012.11:c.1891T>G	ENSP00000343034.7:p.Ser631Ala
ENST00000372220.4:c.916T>G	ENSP00000361294.4:p.Ser306Ala
ENST00000372228.7:c.2119T>G	ENSP00000361302.3:p.Ser707Ala
ENST00000402686.7:c.2053T>G	ENSP00000385797.3:p.Ser685Ala
ENST00000404875.6:c.1702T>G	ENSP00000384531.2:p.Ser568Ala
ENST00000423007.5:c.2053T>G	ENSP00000404119.1:p.Ser685Ala
ENST00000485278.5:n.2603T>G
NM_001077365.1:c.2053T>G	NP_001070833.1:p.Ser685Ala
NM_001077366.1:c.1891T>G	NP_001070834.1:p.Ser631Ala
NM_001136113.1:c.2053T>G	NP_001129585.1:p.Ser685Ala
NM_001136114.1:c.1702T>G	NP_001129586.1:p.Ser568Ala
NM_007171.3:c.2119T>G	NP_009102.3:p.Ser707Ala
XM_005272156.1:c.2119T>G	XP_005272213.1:p.Ser707Ala
XM_005272158.1:c.1957T>G	XP_005272215.1:p.Ser653Ala
XM_005272159.1:c.1768T>G	XP_005272216.1:p.Ser590Ala
XM_005272162.1:c.922T>G	XP_005272219.1:p.Ser308Ala
XM_006716932.1:c.1768T>G	XP_006716995.1:p.Ser590Ala
XM_011518140.1:c.1972T>G	XP_011516442.1:p.Ser658Ala
XM_011518141.1:c.1906T>G	XP_011516443.1:p.Ser636Ala
XM_011518142.1:c.1810T>G	XP_011516444.1:p.Ser604Ala
XM_011518143.1:c.1804T>G	XP_011516445.1:p.Ser602Ala
XM_011518145.1:c.1663T>G	XP_011516447.1:p.Ser555Ala
XM_011518147.1:c.991T>G	XP_011516449.1:p.Ser331Ala
XR_929703.1:n.2295T>G
NM_001353193.1:c.2119T>G	NP_001340122.1:p.Ser707Ala
NM_001353194.1:c.1891T>G	NP_001340123.1:p.Ser631Ala
NM_001353195.1:c.1702T>G	NP_001340124.1:p.Ser568Ala
NM_001353196.1:c.1963T>G	NP_001340125.1:p.Ser655Ala
NM_001353197.1:c.1957T>G	NP_001340126.1:p.Ser653Ala
NM_001353198.1:c.1957T>G	NP_001340127.1:p.Ser653Ala
NM_001353199.1:c.1768T>G	NP_001340128.1:p.Ser590Ala
NM_001353200.1:c.1597T>G	NP_001340129.1:p.Ser533Ala
NR_148391.1:n.2103T>G
NR_148392.1:n.2321T>G
NR_148393.1:n.2242T>G
NR_148394.1:n.1996T>G
NR_148395.1:n.2394T>G
NR_148396.1:n.2028T>G
NR_148397.1:n.2153T>G
NR_148398.1:n.2108T>G
NR_148399.1:n.2634T>G
NR_148400.1:n.2233T>G
XM_005272162.3:c.922T>G	XP_005272219.1:p.Ser308Ala
XM_006716932.2:c.1768T>G	XP_006716995.1:p.Ser590Ala
XM_011518140.2:c.1972T>G	XP_011516442.1:p.Ser658Ala
XM_011518141.2:c.1906T>G	XP_011516443.1:p.Ser636Ala
XM_011518142.2:c.1810T>G	XP_011516444.1:p.Ser604Ala
XM_011518143.2:c.1804T>G	XP_011516445.1:p.Ser602Ala
XM_011518145.2:c.1663T>G	XP_011516447.1:p.Ser555Ala
XM_017014205.2:c.922T>G	XP_016869694.1:p.Ser308Ala
XM_024447380.1:c.922T>G	XP_024303148.1:p.Ser308Ala
XM_024447381.1:c.1228T>G	XP_024303149.1:p.Ser410Ala
XM_024447382.1:c.922T>G	XP_024303150.1:p.Ser308Ala
XR_001746160.2:n.2223T>G
XR_001746162.2:n.2428T>G
XR_001746164.1:n.2145T>G
XR_001746166.2:n.2440T>G
NM_001077365.2:c.2053T>G MANE Select	NP_001070833.1:p.Ser685Ala
NM_001077366.2:c.1891T>G	NP_001070834.1:p.Ser631Ala
NM_001136113.2:c.2053T>G	NP_001129585.1:p.Ser685Ala
NM_001136114.2:c.1702T>G	NP_001129586.1:p.Ser568Ala
NM_001353193.2:c.2119T>G	NP_001340122.2:p.Ser707Ala
NM_001353194.2:c.1891T>G	NP_001340123.1:p.Ser631Ala
NM_001353195.2:c.1702T>G	NP_001340124.1:p.Ser568Ala
NM_001353196.2:c.1963T>G	NP_001340125.1:p.Ser655Ala
NM_001353197.2:c.1957T>G	NP_001340126.2:p.Ser653Ala
NM_001353198.2:c.1957T>G	NP_001340127.2:p.Ser653Ala
NM_001353199.2:c.1768T>G	NP_001340128.2:p.Ser590Ala
NM_001353200.2:c.1597T>G	NP_001340129.1:p.Ser533Ala
NM_001374689.1:c.2041T>G	NP_001361618.1:p.Ser681Ala
NM_001374690.1:c.1834T>G	NP_001361619.1:p.Ser612Ala
NM_001374691.1:c.1702T>G	NP_001361620.1:p.Ser568Ala
NM_001374692.1:c.1702T>G	NP_001361621.1:p.Ser568Ala
NM_001374693.1:c.1702T>G	NP_001361622.1:p.Ser568Ala
NM_001374695.1:c.1663T>G	NP_001361624.1:p.Ser555Ala
NM_007171.4:c.2119T>G	NP_009102.4:p.Ser707Ala
NR_148391.2:n.2087T>G
NR_148392.2:n.2305T>G
NR_148393.2:n.2226T>G
NR_148394.2:n.1980T>G
NR_148395.2:n.2378T>G
NR_148396.2:n.2012T>G
NR_148397.2:n.2137T>G
NR_148398.2:n.2092T>G
NR_148399.2:n.2618T>G
NR_148400.2:n.2217T>G