Canonical Allele Identifier: CA375314897

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398323C>T (hg19) ; chr9:g.131522936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522936C>T , CM000671.2:g.131522936C>T	GRCh38
NC_000009.11:g.134398323C>T , CM000671.1:g.134398323C>T	GRCh37
NC_000009.10:g.133388144C>T	NCBI36
NG_008896.1:g.25035C>T
NG_008896.2:g.25035C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1846C>T	ENSP00000343034.7:p.Gln616Ter
ENST00000404875.7:n.2548C>T
ENST00000423007.6:c.2065C>T	ENSP00000404119.2:p.Gln689Ter
ENST00000677295.2:c.*2352C>T	ENSP00000504346.2:n.*2352C>T
ENST00000678264.2:c.*2191C>T	ENSP00000503157.2:n.*2191C>T
ENST00000682070.1:n.2318C>T
ENST00000682639.1:c.5C>T
ENST00000682813.1:n.2408-3C>T
ENST00000683231.1:c.5C>T
ENST00000683392.1:n.4600C>T
ENST00000683712.1:n.2413C>T
ENST00000683900.1:n.3908C>T
ENST00000684062.1:n.2674C>T
ENST00000684399.1:c.5C>T
ENST00000684579.1:n.3854C>T
ENST00000341012.12:c.1846C>T	ENSP00000343034.7:p.Gln616Ter
ENST00000372220.5:c.877C>T	ENSP00000361294.5:p.Gln293Ter
ENST00000372228.9:c.2074C>T	ENSP00000361302.3:p.Gln692Ter
ENST00000402686.8:c.2008C>T MANE Select	ENSP00000385797.4:p.Gln670Ter
ENST00000676640.1:c.2008C>T	ENSP00000503281.1:p.Gln670Ter
ENST00000676803.1:c.1069C>T	ENSP00000503093.1:p.Gln357Ter
ENST00000676835.1:c.*1223C>T	ENSP00000502911.1:n.*1223C>T
ENST00000677029.1:c.1552C>T	ENSP00000502936.1:p.Gln518Ter
ENST00000677099.1:c.*1718C>T	ENSP00000504553.1:n.*1718C>T
ENST00000677216.1:c.1657C>T	ENSP00000503772.1:p.Gln553Ter
ENST00000677221.1:n.1033C>T
ENST00000677295.1:c.*1230C>T	ENSP00000504346.1:n.*1230C>T
ENST00000677444.1:c.1953C>T
ENST00000677586.1:n.1375C>T
ENST00000677626.1:c.1657C>T	ENSP00000503552.1:p.Gln553Ter
ENST00000677853.1:c.*1016C>T	ENSP00000503488.1:n.*1016C>T
ENST00000678264.1:c.*1385C>T	ENSP00000503157.1:n.*1385C>T
ENST00000678303.1:c.1918C>T	ENSP00000503696.1:p.Gln640Ter
ENST00000678366.1:c.*2257C>T	ENSP00000504353.1:n.*2257C>T
ENST00000678546.1:c.*1953C>T	ENSP00000503062.1:n.*1953C>T
ENST00000678548.1:c.*2147C>T	ENSP00000503934.1:n.*2147C>T
ENST00000678626.1:n.1844C>T
ENST00000678739.1:c.*2174C>T	ENSP00000503806.1:n.*2174C>T
ENST00000678833.1:c.*1760C>T	ENSP00000503893.1:n.*1760C>T
ENST00000679023.1:c.1846C>T	ENSP00000503718.1:p.Gln616Ter
ENST00000679076.1:c.1627C>T
ENST00000679111.1:c.*764C>T	ENSP00000504257.1:n.*764C>T
ENST00000679189.1:c.1657C>T	ENSP00000503356.1:p.Gln553Ter
ENST00000341012.11:c.1846C>T	ENSP00000343034.7:p.Gln616Ter
ENST00000372220.4:c.871C>T	ENSP00000361294.4:p.Gln291Ter
ENST00000372228.7:c.2074C>T	ENSP00000361302.3:p.Gln692Ter
ENST00000402686.7:c.2008C>T	ENSP00000385797.3:p.Gln670Ter
ENST00000404875.6:c.1657C>T	ENSP00000384531.2:p.Gln553Ter
ENST00000423007.5:c.2008C>T	ENSP00000404119.1:p.Gln670Ter
ENST00000485278.5:n.2558C>T
NM_001077365.1:c.2008C>T	NP_001070833.1:p.Gln670Ter
NM_001077366.1:c.1846C>T	NP_001070834.1:p.Gln616Ter
NM_001136113.1:c.2008C>T	NP_001129585.1:p.Gln670Ter
NM_001136114.1:c.1657C>T	NP_001129586.1:p.Gln553Ter
NM_007171.3:c.2074C>T	NP_009102.3:p.Gln692Ter
XM_005272156.1:c.2074C>T	XP_005272213.1:p.Gln692Ter
XM_005272158.1:c.1912C>T	XP_005272215.1:p.Gln638Ter
XM_005272159.1:c.1723C>T	XP_005272216.1:p.Gln575Ter
XM_005272162.1:c.877C>T	XP_005272219.1:p.Gln293Ter
XM_006716932.1:c.1723C>T	XP_006716995.1:p.Gln575Ter
XM_011518140.1:c.1927C>T	XP_011516442.1:p.Gln643Ter
XM_011518141.1:c.1861C>T	XP_011516443.1:p.Gln621Ter
XM_011518142.1:c.1765C>T	XP_011516444.1:p.Gln589Ter
XM_011518143.1:c.1759C>T	XP_011516445.1:p.Gln587Ter
XM_011518145.1:c.1618C>T	XP_011516447.1:p.Gln540Ter
XM_011518147.1:c.946C>T	XP_011516449.1:p.Gln316Ter
XR_929703.1:n.2250C>T
NM_001353193.1:c.2074C>T	NP_001340122.1:p.Gln692Ter
NM_001353194.1:c.1846C>T	NP_001340123.1:p.Gln616Ter
NM_001353195.1:c.1657C>T	NP_001340124.1:p.Gln553Ter
NM_001353196.1:c.1918C>T	NP_001340125.1:p.Gln640Ter
NM_001353197.1:c.1912C>T	NP_001340126.1:p.Gln638Ter
NM_001353198.1:c.1912C>T	NP_001340127.1:p.Gln638Ter
NM_001353199.1:c.1723C>T	NP_001340128.1:p.Gln575Ter
NM_001353200.1:c.1552C>T	NP_001340129.1:p.Gln518Ter
NR_148391.1:n.2058C>T
NR_148392.1:n.2276C>T
NR_148393.1:n.2197C>T
NR_148394.1:n.1951C>T
NR_148395.1:n.2349C>T
NR_148396.1:n.1983C>T
NR_148397.1:n.2108C>T
NR_148398.1:n.2063C>T
NR_148399.1:n.2589C>T
NR_148400.1:n.2188C>T
XM_005272162.3:c.877C>T	XP_005272219.1:p.Gln293Ter
XM_006716932.2:c.1723C>T	XP_006716995.1:p.Gln575Ter
XM_011518140.2:c.1927C>T	XP_011516442.1:p.Gln643Ter
XM_011518141.2:c.1861C>T	XP_011516443.1:p.Gln621Ter
XM_011518142.2:c.1765C>T	XP_011516444.1:p.Gln589Ter
XM_011518143.2:c.1759C>T	XP_011516445.1:p.Gln587Ter
XM_011518145.2:c.1618C>T	XP_011516447.1:p.Gln540Ter
XM_017014205.2:c.877C>T	XP_016869694.1:p.Gln293Ter
XM_024447380.1:c.877C>T	XP_024303148.1:p.Gln293Ter
XM_024447381.1:c.1183C>T	XP_024303149.1:p.Gln395Ter
XM_024447382.1:c.877C>T	XP_024303150.1:p.Gln293Ter
XR_001746160.2:n.2178C>T
XR_001746162.2:n.2383C>T
XR_001746164.1:n.2100C>T
XR_001746166.2:n.2395C>T
NM_001077365.2:c.2008C>T MANE Select	NP_001070833.1:p.Gln670Ter
NM_001077366.2:c.1846C>T	NP_001070834.1:p.Gln616Ter
NM_001136113.2:c.2008C>T	NP_001129585.1:p.Gln670Ter
NM_001136114.2:c.1657C>T	NP_001129586.1:p.Gln553Ter
NM_001353193.2:c.2074C>T	NP_001340122.2:p.Gln692Ter
NM_001353194.2:c.1846C>T	NP_001340123.1:p.Gln616Ter
NM_001353195.2:c.1657C>T	NP_001340124.1:p.Gln553Ter
NM_001353196.2:c.1918C>T	NP_001340125.1:p.Gln640Ter
NM_001353197.2:c.1912C>T	NP_001340126.2:p.Gln638Ter
NM_001353198.2:c.1912C>T	NP_001340127.2:p.Gln638Ter
NM_001353199.2:c.1723C>T	NP_001340128.2:p.Gln575Ter
NM_001353200.2:c.1552C>T	NP_001340129.1:p.Gln518Ter
NM_001374689.1:c.1996C>T	NP_001361618.1:p.Gln666Ter
NM_001374690.1:c.1789C>T	NP_001361619.1:p.Gln597Ter
NM_001374691.1:c.1657C>T	NP_001361620.1:p.Gln553Ter
NM_001374692.1:c.1657C>T	NP_001361621.1:p.Gln553Ter
NM_001374693.1:c.1657C>T	NP_001361622.1:p.Gln553Ter
NM_001374695.1:c.1618C>T	NP_001361624.1:p.Gln540Ter
NM_007171.4:c.2074C>T	NP_009102.4:p.Gln692Ter
NR_148391.2:n.2042C>T
NR_148392.2:n.2260C>T
NR_148393.2:n.2181C>T
NR_148394.2:n.1935C>T
NR_148395.2:n.2333C>T
NR_148396.2:n.1967C>T
NR_148397.2:n.2092C>T
NR_148398.2:n.2047C>T
NR_148399.2:n.2573C>T
NR_148400.2:n.2172C>T