Canonical Allele Identifier: CA375314026

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396854C>G (hg19) ; chr9:g.131521467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521467C>G , CM000671.2:g.131521467C>G	GRCh38
NC_000009.11:g.134396854C>G , CM000671.1:g.134396854C>G	GRCh37
NC_000009.10:g.133386675C>G	NCBI36
NG_008896.1:g.23566C>G
NG_008896.2:g.23566C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1658C>G	ENSP00000343034.7:p.Pro553Arg
ENST00000404875.7:n.2360C>G
ENST00000423007.6:c.1877C>G	ENSP00000404119.2:p.Pro626Arg
ENST00000677295.2:c.*2164C>G	ENSP00000504346.2:n.*2164C>G
ENST00000678264.2:c.*2003C>G	ENSP00000503157.2:n.*2003C>G
ENST00000682070.1:n.2285C>G
ENST00000682813.1:n.2224C>G
ENST00000683392.1:n.4567C>G
ENST00000683712.1:n.2225C>G
ENST00000683900.1:n.3720C>G
ENST00000684062.1:n.2486C>G
ENST00000684579.1:n.3666C>G
ENST00000684679.1:n.1047C>G
ENST00000341012.12:c.1658C>G	ENSP00000343034.7:p.Pro553Arg
ENST00000372220.5:c.689C>G	ENSP00000361294.5:p.Pro230Arg
ENST00000372228.9:c.1886C>G	ENSP00000361302.3:p.Pro629Arg
ENST00000402686.8:c.1820C>G MANE Select	ENSP00000385797.4:p.Pro607Arg
ENST00000676640.1:c.1820C>G	ENSP00000503281.1:p.Pro607Arg
ENST00000676803.1:c.881C>G	ENSP00000503093.1:p.Pro294Arg
ENST00000676835.1:c.*1035C>G	ENSP00000502911.1:n.*1035C>G
ENST00000677029.1:c.1364C>G	ENSP00000502936.1:p.Pro455Arg
ENST00000677099.1:c.*1530C>G	ENSP00000504553.1:n.*1530C>G
ENST00000677216.1:c.1469C>G	ENSP00000503772.1:p.Pro490Arg
ENST00000677221.1:n.845C>G
ENST00000677295.1:c.*1197C>G	ENSP00000504346.1:n.*1197C>G
ENST00000677444.1:c.1765C>G
ENST00000677586.1:n.1187C>G
ENST00000677626.1:c.1469C>G	ENSP00000503552.1:p.Pro490Arg
ENST00000677853.1:c.*828C>G	ENSP00000503488.1:n.*828C>G
ENST00000678202.1:n.979C>G
ENST00000678264.1:c.*1197C>G	ENSP00000503157.1:n.*1197C>G
ENST00000678303.1:c.1730C>G	ENSP00000503696.1:p.Pro577Arg
ENST00000678366.1:c.*2069C>G	ENSP00000504353.1:n.*2069C>G
ENST00000678546.1:c.*1765C>G	ENSP00000503062.1:n.*1765C>G
ENST00000678548.1:c.*1892C>G	ENSP00000503934.1:n.*1892C>G
ENST00000678626.1:n.1656C>G
ENST00000678739.1:c.*2141C>G	ENSP00000503806.1:n.*2141C>G
ENST00000678833.1:c.*1572C>G	ENSP00000503893.1:n.*1572C>G
ENST00000679023.1:c.1658C>G	ENSP00000503718.1:p.Pro553Arg
ENST00000679076.1:c.1439C>G
ENST00000679111.1:c.*576C>G	ENSP00000504257.1:n.*576C>G
ENST00000679189.1:c.1469C>G	ENSP00000503356.1:p.Pro490Arg
ENST00000341012.11:c.1658C>G	ENSP00000343034.7:p.Pro553Arg
ENST00000372220.4:c.683C>G	ENSP00000361294.4:p.Pro228Arg
ENST00000372228.7:c.1886C>G	ENSP00000361302.3:p.Pro629Arg
ENST00000402686.7:c.1820C>G	ENSP00000385797.3:p.Pro607Arg
ENST00000404875.6:c.1469C>G	ENSP00000384531.2:p.Pro490Arg
ENST00000423007.5:c.1820C>G	ENSP00000404119.1:p.Pro607Arg
ENST00000485278.5:n.2370C>G
ENST00000494883.1:n.363C>G
NM_001077365.1:c.1820C>G	NP_001070833.1:p.Pro607Arg
NM_001077366.1:c.1658C>G	NP_001070834.1:p.Pro553Arg
NM_001136113.1:c.1820C>G	NP_001129585.1:p.Pro607Arg
NM_001136114.1:c.1469C>G	NP_001129586.1:p.Pro490Arg
NM_007171.3:c.1886C>G	NP_009102.3:p.Pro629Arg
XM_005272156.1:c.1886C>G	XP_005272213.1:p.Pro629Arg
XM_005272158.1:c.1724C>G	XP_005272215.1:p.Pro575Arg
XM_005272159.1:c.1535C>G	XP_005272216.1:p.Pro512Arg
XM_005272162.1:c.689C>G	XP_005272219.1:p.Pro230Arg
XM_006716932.1:c.1535C>G	XP_006716995.1:p.Pro512Arg
XM_011518140.1:c.1739C>G	XP_011516442.1:p.Pro580Arg
XM_011518141.1:c.1673C>G	XP_011516443.1:p.Pro558Arg
XM_011518142.1:c.1577C>G	XP_011516444.1:p.Pro526Arg
XM_011518143.1:c.1571C>G	XP_011516445.1:p.Pro524Arg
XM_011518145.1:c.1430C>G	XP_011516447.1:p.Pro477Arg
XM_011518147.1:c.758C>G	XP_011516449.1:p.Pro253Arg
XR_929703.1:n.2062C>G
NM_001353193.1:c.1886C>G	NP_001340122.1:p.Pro629Arg
NM_001353194.1:c.1658C>G	NP_001340123.1:p.Pro553Arg
NM_001353195.1:c.1469C>G	NP_001340124.1:p.Pro490Arg
NM_001353196.1:c.1730C>G	NP_001340125.1:p.Pro577Arg
NM_001353197.1:c.1724C>G	NP_001340126.1:p.Pro575Arg
NM_001353198.1:c.1724C>G	NP_001340127.1:p.Pro575Arg
NM_001353199.1:c.1535C>G	NP_001340128.1:p.Pro512Arg
NM_001353200.1:c.1364C>G	NP_001340129.1:p.Pro455Arg
NR_148391.1:n.1870C>G
NR_148392.1:n.2088C>G
NR_148393.1:n.2009C>G
NR_148394.1:n.1763C>G
NR_148395.1:n.2161C>G
NR_148396.1:n.1795C>G
NR_148397.1:n.1920C>G
NR_148398.1:n.1875C>G
NR_148399.1:n.2401C>G
NR_148400.1:n.2000C>G
XM_005272162.3:c.689C>G	XP_005272219.1:p.Pro230Arg
XM_006716932.2:c.1535C>G	XP_006716995.1:p.Pro512Arg
XM_011518140.2:c.1739C>G	XP_011516442.1:p.Pro580Arg
XM_011518141.2:c.1673C>G	XP_011516443.1:p.Pro558Arg
XM_011518142.2:c.1577C>G	XP_011516444.1:p.Pro526Arg
XM_011518143.2:c.1571C>G	XP_011516445.1:p.Pro524Arg
XM_011518145.2:c.1430C>G	XP_011516447.1:p.Pro477Arg
XM_017014205.2:c.689C>G	XP_016869694.1:p.Pro230Arg
XM_024447380.1:c.689C>G	XP_024303148.1:p.Pro230Arg
XM_024447381.1:c.995C>G	XP_024303149.1:p.Pro332Arg
XM_024447382.1:c.689C>G	XP_024303150.1:p.Pro230Arg
XR_001746160.2:n.1990C>G
XR_001746162.2:n.2195C>G
XR_001746164.1:n.1912C>G
XR_001746166.2:n.2207C>G
NM_001077365.2:c.1820C>G MANE Select	NP_001070833.1:p.Pro607Arg
NM_001077366.2:c.1658C>G	NP_001070834.1:p.Pro553Arg
NM_001136113.2:c.1820C>G	NP_001129585.1:p.Pro607Arg
NM_001136114.2:c.1469C>G	NP_001129586.1:p.Pro490Arg
NM_001353193.2:c.1886C>G	NP_001340122.2:p.Pro629Arg
NM_001353194.2:c.1658C>G	NP_001340123.1:p.Pro553Arg
NM_001353195.2:c.1469C>G	NP_001340124.1:p.Pro490Arg
NM_001353196.2:c.1730C>G	NP_001340125.1:p.Pro577Arg
NM_001353197.2:c.1724C>G	NP_001340126.2:p.Pro575Arg
NM_001353198.2:c.1724C>G	NP_001340127.2:p.Pro575Arg
NM_001353199.2:c.1535C>G	NP_001340128.2:p.Pro512Arg
NM_001353200.2:c.1364C>G	NP_001340129.1:p.Pro455Arg
NM_001374689.1:c.1808C>G	NP_001361618.1:p.Pro603Arg
NM_001374690.1:c.1601C>G	NP_001361619.1:p.Pro534Arg
NM_001374691.1:c.1469C>G	NP_001361620.1:p.Pro490Arg
NM_001374692.1:c.1469C>G	NP_001361621.1:p.Pro490Arg
NM_001374693.1:c.1469C>G	NP_001361622.1:p.Pro490Arg
NM_001374695.1:c.1430C>G	NP_001361624.1:p.Pro477Arg
NM_007171.4:c.1886C>G	NP_009102.4:p.Pro629Arg
NR_148391.2:n.1854C>G
NR_148392.2:n.2072C>G
NR_148393.2:n.1993C>G
NR_148394.2:n.1747C>G
NR_148395.2:n.2145C>G
NR_148396.2:n.1779C>G
NR_148397.2:n.1904C>G
NR_148398.2:n.1859C>G
NR_148399.2:n.2385C>G
NR_148400.2:n.1984C>G