Canonical Allele Identifier: CA467423890

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396852C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521465C>A , CM000671.2:g.131521465C>A	GRCh38
NC_000009.11:g.134396852C>A , CM000671.1:g.134396852C>A	GRCh37
NC_000009.10:g.133386673C>A	NCBI36
NG_008896.1:g.23564C>A
NG_008896.2:g.23564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1656C>A	ENSP00000343034.7:p.Leu552=
ENST00000404875.7:n.2358C>A
ENST00000423007.6:c.1875C>A	ENSP00000404119.2:p.Leu625=
ENST00000677295.2:c.*2162C>A	ENSP00000504346.2:n.*2162C>A
ENST00000678264.2:c.*2001C>A	ENSP00000503157.2:n.*2001C>A
ENST00000682070.1:n.2283C>A
ENST00000682813.1:n.2222C>A
ENST00000683392.1:n.4565C>A
ENST00000683712.1:n.2223C>A
ENST00000683900.1:n.3718C>A
ENST00000684062.1:n.2484C>A
ENST00000684579.1:n.3664C>A
ENST00000684679.1:n.1045C>A
ENST00000341012.12:c.1656C>A	ENSP00000343034.7:p.Leu552=
ENST00000372220.5:c.687C>A	ENSP00000361294.5:p.Leu229=
ENST00000372228.9:c.1884C>A	ENSP00000361302.3:p.Leu628=
ENST00000402686.8:c.1818C>A MANE Select	ENSP00000385797.4:p.Leu606=
ENST00000676640.1:c.1818C>A	ENSP00000503281.1:p.Leu606=
ENST00000676803.1:c.879C>A	ENSP00000503093.1:p.Leu293=
ENST00000676835.1:c.*1033C>A	ENSP00000502911.1:n.*1033C>A
ENST00000677029.1:c.1362C>A	ENSP00000502936.1:p.Leu454=
ENST00000677099.1:c.*1528C>A	ENSP00000504553.1:n.*1528C>A
ENST00000677216.1:c.1467C>A	ENSP00000503772.1:p.Leu489=
ENST00000677221.1:n.843C>A
ENST00000677295.1:c.*1195C>A	ENSP00000504346.1:n.*1195C>A
ENST00000677444.1:c.1763C>A
ENST00000677586.1:n.1185C>A
ENST00000677626.1:c.1467C>A	ENSP00000503552.1:p.Leu489=
ENST00000677853.1:c.*826C>A	ENSP00000503488.1:n.*826C>A
ENST00000678202.1:n.977C>A
ENST00000678264.1:c.*1195C>A	ENSP00000503157.1:n.*1195C>A
ENST00000678303.1:c.1728C>A	ENSP00000503696.1:p.Leu576=
ENST00000678366.1:c.*2067C>A	ENSP00000504353.1:n.*2067C>A
ENST00000678546.1:c.*1763C>A	ENSP00000503062.1:n.*1763C>A
ENST00000678548.1:c.*1890C>A	ENSP00000503934.1:n.*1890C>A
ENST00000678626.1:n.1654C>A
ENST00000678739.1:c.*2139C>A	ENSP00000503806.1:n.*2139C>A
ENST00000678833.1:c.*1570C>A	ENSP00000503893.1:n.*1570C>A
ENST00000679023.1:c.1656C>A	ENSP00000503718.1:p.Leu552=
ENST00000679076.1:c.1437C>A
ENST00000679111.1:c.*574C>A	ENSP00000504257.1:n.*574C>A
ENST00000679189.1:c.1467C>A	ENSP00000503356.1:p.Leu489=
ENST00000341012.11:c.1656C>A	ENSP00000343034.7:p.Leu552=
ENST00000372220.4:c.681C>A	ENSP00000361294.4:p.Leu227=
ENST00000372228.7:c.1884C>A	ENSP00000361302.3:p.Leu628=
ENST00000402686.7:c.1818C>A	ENSP00000385797.3:p.Leu606=
ENST00000404875.6:c.1467C>A	ENSP00000384531.2:p.Leu489=
ENST00000423007.5:c.1818C>A	ENSP00000404119.1:p.Leu606=
ENST00000485278.5:n.2368C>A
ENST00000494883.1:n.361C>A
NM_001077365.1:c.1818C>A	NP_001070833.1:p.Leu606=
NM_001077366.1:c.1656C>A	NP_001070834.1:p.Leu552=
NM_001136113.1:c.1818C>A	NP_001129585.1:p.Leu606=
NM_001136114.1:c.1467C>A	NP_001129586.1:p.Leu489=
NM_007171.3:c.1884C>A	NP_009102.3:p.Leu628=
XM_005272156.1:c.1884C>A	XP_005272213.1:p.Leu628=
XM_005272158.1:c.1722C>A	XP_005272215.1:p.Leu574=
XM_005272159.1:c.1533C>A	XP_005272216.1:p.Leu511=
XM_005272162.1:c.687C>A	XP_005272219.1:p.Leu229=
XM_006716932.1:c.1533C>A	XP_006716995.1:p.Leu511=
XM_011518140.1:c.1737C>A	XP_011516442.1:p.Leu579=
XM_011518141.1:c.1671C>A	XP_011516443.1:p.Leu557=
XM_011518142.1:c.1575C>A	XP_011516444.1:p.Leu525=
XM_011518143.1:c.1569C>A	XP_011516445.1:p.Leu523=
XM_011518145.1:c.1428C>A	XP_011516447.1:p.Leu476=
XM_011518147.1:c.756C>A	XP_011516449.1:p.Leu252=
XR_929703.1:n.2060C>A
NM_001353193.1:c.1884C>A	NP_001340122.1:p.Leu628=
NM_001353194.1:c.1656C>A	NP_001340123.1:p.Leu552=
NM_001353195.1:c.1467C>A	NP_001340124.1:p.Leu489=
NM_001353196.1:c.1728C>A	NP_001340125.1:p.Leu576=
NM_001353197.1:c.1722C>A	NP_001340126.1:p.Leu574=
NM_001353198.1:c.1722C>A	NP_001340127.1:p.Leu574=
NM_001353199.1:c.1533C>A	NP_001340128.1:p.Leu511=
NM_001353200.1:c.1362C>A	NP_001340129.1:p.Leu454=
NR_148391.1:n.1868C>A
NR_148392.1:n.2086C>A
NR_148393.1:n.2007C>A
NR_148394.1:n.1761C>A
NR_148395.1:n.2159C>A
NR_148396.1:n.1793C>A
NR_148397.1:n.1918C>A
NR_148398.1:n.1873C>A
NR_148399.1:n.2399C>A
NR_148400.1:n.1998C>A
XM_005272162.3:c.687C>A	XP_005272219.1:p.Leu229=
XM_006716932.2:c.1533C>A	XP_006716995.1:p.Leu511=
XM_011518140.2:c.1737C>A	XP_011516442.1:p.Leu579=
XM_011518141.2:c.1671C>A	XP_011516443.1:p.Leu557=
XM_011518142.2:c.1575C>A	XP_011516444.1:p.Leu525=
XM_011518143.2:c.1569C>A	XP_011516445.1:p.Leu523=
XM_011518145.2:c.1428C>A	XP_011516447.1:p.Leu476=
XM_017014205.2:c.687C>A	XP_016869694.1:p.Leu229=
XM_024447380.1:c.687C>A	XP_024303148.1:p.Leu229=
XM_024447381.1:c.993C>A	XP_024303149.1:p.Leu331=
XM_024447382.1:c.687C>A	XP_024303150.1:p.Leu229=
XR_001746160.2:n.1988C>A
XR_001746162.2:n.2193C>A
XR_001746164.1:n.1910C>A
XR_001746166.2:n.2205C>A
NM_001077365.2:c.1818C>A MANE Select	NP_001070833.1:p.Leu606=
NM_001077366.2:c.1656C>A	NP_001070834.1:p.Leu552=
NM_001136113.2:c.1818C>A	NP_001129585.1:p.Leu606=
NM_001136114.2:c.1467C>A	NP_001129586.1:p.Leu489=
NM_001353193.2:c.1884C>A	NP_001340122.2:p.Leu628=
NM_001353194.2:c.1656C>A	NP_001340123.1:p.Leu552=
NM_001353195.2:c.1467C>A	NP_001340124.1:p.Leu489=
NM_001353196.2:c.1728C>A	NP_001340125.1:p.Leu576=
NM_001353197.2:c.1722C>A	NP_001340126.2:p.Leu574=
NM_001353198.2:c.1722C>A	NP_001340127.2:p.Leu574=
NM_001353199.2:c.1533C>A	NP_001340128.2:p.Leu511=
NM_001353200.2:c.1362C>A	NP_001340129.1:p.Leu454=
NM_001374689.1:c.1806C>A	NP_001361618.1:p.Leu602=
NM_001374690.1:c.1599C>A	NP_001361619.1:p.Leu533=
NM_001374691.1:c.1467C>A	NP_001361620.1:p.Leu489=
NM_001374692.1:c.1467C>A	NP_001361621.1:p.Leu489=
NM_001374693.1:c.1467C>A	NP_001361622.1:p.Leu489=
NM_001374695.1:c.1428C>A	NP_001361624.1:p.Leu476=
NM_007171.4:c.1884C>A	NP_009102.4:p.Leu628=
NR_148391.2:n.1852C>A
NR_148392.2:n.2070C>A
NR_148393.2:n.1991C>A
NR_148394.2:n.1745C>A
NR_148395.2:n.2143C>A
NR_148396.2:n.1777C>A
NR_148397.2:n.1902C>A
NR_148398.2:n.1857C>A
NR_148399.2:n.2383C>A
NR_148400.2:n.1982C>A