Canonical Allele Identifier: CA5293808

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1377587
• ClinVar RCV Id: RCV001912282 ; RCV004041105
• dbSNP Id: rs755804404
• ExAC: 9:134396773 C / T
• gnomAD v2: 9-134396773-C-T
• gnomAD v4: 9-131521386-C-T
• COSMIC: COSM284147
• MyVariant Identifiers: chr9:g.134396773C>T (hg19) ; chr9:g.131521386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521386C>T , CM000671.2:g.131521386C>T	GRCh38
NC_000009.11:g.134396773C>T , CM000671.1:g.134396773C>T	GRCh37
NC_000009.10:g.133386594C>T	NCBI36
NG_008896.1:g.23485C>T
NG_008896.2:g.23485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1577C>T	ENSP00000343034.7:p.Ser526Leu
ENST00000404875.7:n.2279C>T
ENST00000423007.6:c.1796C>T	ENSP00000404119.2:p.Ser599Leu
ENST00000677295.2:c.*2083C>T	ENSP00000504346.2:n.*2083C>T
ENST00000678264.2:c.*1922C>T	ENSP00000503157.2:n.*1922C>T
ENST00000682070.1:n.2204C>T
ENST00000682813.1:n.2143C>T
ENST00000683392.1:n.4486C>T
ENST00000683712.1:n.2144C>T
ENST00000683900.1:n.3639C>T
ENST00000684062.1:n.2405C>T
ENST00000684579.1:n.3585C>T
ENST00000684679.1:n.966C>T
ENST00000341012.12:c.1577C>T	ENSP00000343034.7:p.Ser526Leu
ENST00000372220.5:c.608C>T	ENSP00000361294.5:p.Ser203Leu
ENST00000372228.9:c.1805C>T	ENSP00000361302.3:p.Ser602Leu
ENST00000402686.8:c.1739C>T MANE Select	ENSP00000385797.4:p.Ser580Leu
ENST00000676640.1:c.1739C>T	ENSP00000503281.1:p.Ser580Leu
ENST00000676803.1:c.800C>T	ENSP00000503093.1:p.Ser267Leu
ENST00000676835.1:c.*954C>T	ENSP00000502911.1:n.*954C>T
ENST00000677029.1:c.1283C>T	ENSP00000502936.1:p.Ser428Leu
ENST00000677099.1:c.*1449C>T	ENSP00000504553.1:n.*1449C>T
ENST00000677216.1:c.1388C>T	ENSP00000503772.1:p.Ser463Leu
ENST00000677221.1:n.764C>T
ENST00000677295.1:c.*1116C>T	ENSP00000504346.1:n.*1116C>T
ENST00000677444.1:c.1684C>T
ENST00000677586.1:n.1106C>T
ENST00000677626.1:c.1388C>T	ENSP00000503552.1:p.Ser463Leu
ENST00000677853.1:c.*747C>T	ENSP00000503488.1:n.*747C>T
ENST00000678202.1:n.898C>T
ENST00000678264.1:c.*1116C>T	ENSP00000503157.1:n.*1116C>T
ENST00000678303.1:c.1649C>T	ENSP00000503696.1:p.Ser550Leu
ENST00000678366.1:c.*1988C>T	ENSP00000504353.1:n.*1988C>T
ENST00000678546.1:c.*1684C>T	ENSP00000503062.1:n.*1684C>T
ENST00000678548.1:c.*1811C>T	ENSP00000503934.1:n.*1811C>T
ENST00000678626.1:n.1575C>T
ENST00000678739.1:c.*2060C>T	ENSP00000503806.1:n.*2060C>T
ENST00000678833.1:c.*1491C>T	ENSP00000503893.1:n.*1491C>T
ENST00000679023.1:c.1577C>T	ENSP00000503718.1:p.Ser526Leu
ENST00000679076.1:c.1358C>T
ENST00000679111.1:c.*495C>T	ENSP00000504257.1:n.*495C>T
ENST00000679189.1:c.1388C>T	ENSP00000503356.1:p.Ser463Leu
ENST00000341012.11:c.1577C>T	ENSP00000343034.7:p.Ser526Leu
ENST00000372220.4:c.602C>T	ENSP00000361294.4:p.Ser201Leu
ENST00000372228.7:c.1805C>T	ENSP00000361302.3:p.Ser602Leu
ENST00000402686.7:c.1739C>T	ENSP00000385797.3:p.Ser580Leu
ENST00000404875.6:c.1388C>T	ENSP00000384531.2:p.Ser463Leu
ENST00000423007.5:c.1739C>T	ENSP00000404119.1:p.Ser580Leu
ENST00000467848.1:n.443C>T
ENST00000485278.5:n.2289C>T
ENST00000494883.1:n.282C>T
NM_001077365.1:c.1739C>T	NP_001070833.1:p.Ser580Leu
NM_001077366.1:c.1577C>T	NP_001070834.1:p.Ser526Leu
NM_001136113.1:c.1739C>T	NP_001129585.1:p.Ser580Leu
NM_001136114.1:c.1388C>T	NP_001129586.1:p.Ser463Leu
NM_007171.3:c.1805C>T	NP_009102.3:p.Ser602Leu
XM_005272156.1:c.1805C>T	XP_005272213.1:p.Ser602Leu
XM_005272158.1:c.1643C>T	XP_005272215.1:p.Ser548Leu
XM_005272159.1:c.1454C>T	XP_005272216.1:p.Ser485Leu
XM_005272162.1:c.608C>T	XP_005272219.1:p.Ser203Leu
XM_006716932.1:c.1454C>T	XP_006716995.1:p.Ser485Leu
XM_011518140.1:c.1658C>T	XP_011516442.1:p.Ser553Leu
XM_011518141.1:c.1592C>T	XP_011516443.1:p.Ser531Leu
XM_011518142.1:c.1496C>T	XP_011516444.1:p.Ser499Leu
XM_011518143.1:c.1490C>T	XP_011516445.1:p.Ser497Leu
XM_011518145.1:c.1349C>T	XP_011516447.1:p.Ser450Leu
XM_011518147.1:c.677C>T	XP_011516449.1:p.Ser226Leu
XR_929703.1:n.1981C>T
NM_001353193.1:c.1805C>T	NP_001340122.1:p.Ser602Leu
NM_001353194.1:c.1577C>T	NP_001340123.1:p.Ser526Leu
NM_001353195.1:c.1388C>T	NP_001340124.1:p.Ser463Leu
NM_001353196.1:c.1649C>T	NP_001340125.1:p.Ser550Leu
NM_001353197.1:c.1643C>T	NP_001340126.1:p.Ser548Leu
NM_001353198.1:c.1643C>T	NP_001340127.1:p.Ser548Leu
NM_001353199.1:c.1454C>T	NP_001340128.1:p.Ser485Leu
NM_001353200.1:c.1283C>T	NP_001340129.1:p.Ser428Leu
NR_148391.1:n.1789C>T
NR_148392.1:n.2007C>T
NR_148393.1:n.1928C>T
NR_148394.1:n.1682C>T
NR_148395.1:n.2080C>T
NR_148396.1:n.1714C>T
NR_148397.1:n.1839C>T
NR_148398.1:n.1794C>T
NR_148399.1:n.2320C>T
NR_148400.1:n.1919C>T
XM_005272162.3:c.608C>T	XP_005272219.1:p.Ser203Leu
XM_006716932.2:c.1454C>T	XP_006716995.1:p.Ser485Leu
XM_011518140.2:c.1658C>T	XP_011516442.1:p.Ser553Leu
XM_011518141.2:c.1592C>T	XP_011516443.1:p.Ser531Leu
XM_011518142.2:c.1496C>T	XP_011516444.1:p.Ser499Leu
XM_011518143.2:c.1490C>T	XP_011516445.1:p.Ser497Leu
XM_011518145.2:c.1349C>T	XP_011516447.1:p.Ser450Leu
XM_017014205.2:c.608C>T	XP_016869694.1:p.Ser203Leu
XM_024447380.1:c.608C>T	XP_024303148.1:p.Ser203Leu
XM_024447381.1:c.914C>T	XP_024303149.1:p.Ser305Leu
XM_024447382.1:c.608C>T	XP_024303150.1:p.Ser203Leu
XR_001746160.2:n.1909C>T
XR_001746162.2:n.2114C>T
XR_001746164.1:n.1831C>T
XR_001746166.2:n.2126C>T
NM_001077365.2:c.1739C>T MANE Select	NP_001070833.1:p.Ser580Leu
NM_001077366.2:c.1577C>T	NP_001070834.1:p.Ser526Leu
NM_001136113.2:c.1739C>T	NP_001129585.1:p.Ser580Leu
NM_001136114.2:c.1388C>T	NP_001129586.1:p.Ser463Leu
NM_001353193.2:c.1805C>T	NP_001340122.2:p.Ser602Leu
NM_001353194.2:c.1577C>T	NP_001340123.1:p.Ser526Leu
NM_001353195.2:c.1388C>T	NP_001340124.1:p.Ser463Leu
NM_001353196.2:c.1649C>T	NP_001340125.1:p.Ser550Leu
NM_001353197.2:c.1643C>T	NP_001340126.2:p.Ser548Leu
NM_001353198.2:c.1643C>T	NP_001340127.2:p.Ser548Leu
NM_001353199.2:c.1454C>T	NP_001340128.2:p.Ser485Leu
NM_001353200.2:c.1283C>T	NP_001340129.1:p.Ser428Leu
NM_001374689.1:c.1727C>T	NP_001361618.1:p.Ser576Leu
NM_001374690.1:c.1520C>T	NP_001361619.1:p.Ser507Leu
NM_001374691.1:c.1388C>T	NP_001361620.1:p.Ser463Leu
NM_001374692.1:c.1388C>T	NP_001361621.1:p.Ser463Leu
NM_001374693.1:c.1388C>T	NP_001361622.1:p.Ser463Leu
NM_001374695.1:c.1349C>T	NP_001361624.1:p.Ser450Leu
NM_007171.4:c.1805C>T	NP_009102.4:p.Ser602Leu
NR_148391.2:n.1773C>T
NR_148392.2:n.1991C>T
NR_148393.2:n.1912C>T
NR_148394.2:n.1666C>T
NR_148395.2:n.2064C>T
NR_148396.2:n.1698C>T
NR_148397.2:n.1823C>T
NR_148398.2:n.1778C>T
NR_148399.2:n.2304C>T
NR_148400.2:n.1903C>T