Canonical Allele Identifier: CA375314734

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397600C>G (hg19) ; chr9:g.131522213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522213C>G , CM000671.2:g.131522213C>G	GRCh38
NC_000009.11:g.134397600C>G , CM000671.1:g.134397600C>G	GRCh37
NC_000009.10:g.133387421C>G	NCBI36
NG_008896.1:g.24312C>G
NG_008896.2:g.24312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1830C>G	ENSP00000343034.7:p.Asp610Glu
ENST00000404875.7:n.2532C>G
ENST00000423007.6:c.2049C>G	ENSP00000404119.2:p.Asp683Glu
ENST00000677295.2:c.*2336C>G	ENSP00000504346.2:n.*2336C>G
ENST00000678264.2:c.*2175C>G	ENSP00000503157.2:n.*2175C>G
ENST00000682070.1:n.2302C>G
ENST00000682813.1:n.2396C>G
ENST00000683392.1:n.4584C>G
ENST00000683712.1:n.2397C>G
ENST00000683900.1:n.3892C>G
ENST00000684062.1:n.2658C>G
ENST00000684579.1:n.3838C>G
ENST00000341012.12:c.1830C>G	ENSP00000343034.7:p.Asp610Glu
ENST00000372220.5:c.861C>G	ENSP00000361294.5:p.Asp287Glu
ENST00000372228.9:c.2058C>G	ENSP00000361302.3:p.Asp686Glu
ENST00000402686.8:c.1992C>G MANE Select	ENSP00000385797.4:p.Asp664Glu
ENST00000676640.1:c.1992C>G	ENSP00000503281.1:p.Asp664Glu
ENST00000676803.1:c.1053C>G	ENSP00000503093.1:p.Asp351Glu
ENST00000676835.1:c.*1207C>G	ENSP00000502911.1:n.*1207C>G
ENST00000677029.1:c.1536C>G	ENSP00000502936.1:p.Asp512Glu
ENST00000677099.1:c.*1702C>G	ENSP00000504553.1:n.*1702C>G
ENST00000677216.1:c.1641C>G	ENSP00000503772.1:p.Asp547Glu
ENST00000677221.1:n.1017C>G
ENST00000677295.1:c.*1214C>G	ENSP00000504346.1:n.*1214C>G
ENST00000677444.1:c.1937C>G
ENST00000677586.1:n.1359C>G
ENST00000677626.1:c.1641C>G	ENSP00000503552.1:p.Asp547Glu
ENST00000677853.1:c.*1000C>G	ENSP00000503488.1:n.*1000C>G
ENST00000678264.1:c.*1369C>G	ENSP00000503157.1:n.*1369C>G
ENST00000678303.1:c.1902C>G	ENSP00000503696.1:p.Asp634Glu
ENST00000678366.1:c.*2241C>G	ENSP00000504353.1:n.*2241C>G
ENST00000678546.1:c.*1937C>G	ENSP00000503062.1:n.*1937C>G
ENST00000678548.1:c.*2131C>G	ENSP00000503934.1:n.*2131C>G
ENST00000678626.1:n.1828C>G
ENST00000678739.1:c.*2158C>G	ENSP00000503806.1:n.*2158C>G
ENST00000678833.1:c.*1744C>G	ENSP00000503893.1:n.*1744C>G
ENST00000679023.1:c.1830C>G	ENSP00000503718.1:p.Asp610Glu
ENST00000679076.1:c.1611C>G
ENST00000679111.1:c.*748C>G	ENSP00000504257.1:n.*748C>G
ENST00000679189.1:c.1641C>G	ENSP00000503356.1:p.Asp547Glu
ENST00000341012.11:c.1830C>G	ENSP00000343034.7:p.Asp610Glu
ENST00000372220.4:c.855C>G	ENSP00000361294.4:p.Asp285Glu
ENST00000372228.7:c.2058C>G	ENSP00000361302.3:p.Asp686Glu
ENST00000402686.7:c.1992C>G	ENSP00000385797.3:p.Asp664Glu
ENST00000404875.6:c.1641C>G	ENSP00000384531.2:p.Asp547Glu
ENST00000423007.5:c.1992C>G	ENSP00000404119.1:p.Asp664Glu
ENST00000485278.5:n.2542C>G
ENST00000494883.1:n.535C>G
NM_001077365.1:c.1992C>G	NP_001070833.1:p.Asp664Glu
NM_001077366.1:c.1830C>G	NP_001070834.1:p.Asp610Glu
NM_001136113.1:c.1992C>G	NP_001129585.1:p.Asp664Glu
NM_001136114.1:c.1641C>G	NP_001129586.1:p.Asp547Glu
NM_007171.3:c.2058C>G	NP_009102.3:p.Asp686Glu
XM_005272156.1:c.2058C>G	XP_005272213.1:p.Asp686Glu
XM_005272158.1:c.1896C>G	XP_005272215.1:p.Asp632Glu
XM_005272159.1:c.1707C>G	XP_005272216.1:p.Asp569Glu
XM_005272162.1:c.861C>G	XP_005272219.1:p.Asp287Glu
XM_006716932.1:c.1707C>G	XP_006716995.1:p.Asp569Glu
XM_011518140.1:c.1911C>G	XP_011516442.1:p.Asp637Glu
XM_011518141.1:c.1845C>G	XP_011516443.1:p.Asp615Glu
XM_011518142.1:c.1749C>G	XP_011516444.1:p.Asp583Glu
XM_011518143.1:c.1743C>G	XP_011516445.1:p.Asp581Glu
XM_011518145.1:c.1602C>G	XP_011516447.1:p.Asp534Glu
XM_011518147.1:c.930C>G	XP_011516449.1:p.Asp310Glu
XR_929703.1:n.2234C>G
NM_001353193.1:c.2058C>G	NP_001340122.1:p.Asp686Glu
NM_001353194.1:c.1830C>G	NP_001340123.1:p.Asp610Glu
NM_001353195.1:c.1641C>G	NP_001340124.1:p.Asp547Glu
NM_001353196.1:c.1902C>G	NP_001340125.1:p.Asp634Glu
NM_001353197.1:c.1896C>G	NP_001340126.1:p.Asp632Glu
NM_001353198.1:c.1896C>G	NP_001340127.1:p.Asp632Glu
NM_001353199.1:c.1707C>G	NP_001340128.1:p.Asp569Glu
NM_001353200.1:c.1536C>G	NP_001340129.1:p.Asp512Glu
NR_148391.1:n.2042C>G
NR_148392.1:n.2260C>G
NR_148393.1:n.2181C>G
NR_148394.1:n.1935C>G
NR_148395.1:n.2333C>G
NR_148396.1:n.1967C>G
NR_148397.1:n.2092C>G
NR_148398.1:n.2047C>G
NR_148399.1:n.2573C>G
NR_148400.1:n.2172C>G
XM_005272162.3:c.861C>G	XP_005272219.1:p.Asp287Glu
XM_006716932.2:c.1707C>G	XP_006716995.1:p.Asp569Glu
XM_011518140.2:c.1911C>G	XP_011516442.1:p.Asp637Glu
XM_011518141.2:c.1845C>G	XP_011516443.1:p.Asp615Glu
XM_011518142.2:c.1749C>G	XP_011516444.1:p.Asp583Glu
XM_011518143.2:c.1743C>G	XP_011516445.1:p.Asp581Glu
XM_011518145.2:c.1602C>G	XP_011516447.1:p.Asp534Glu
XM_017014205.2:c.861C>G	XP_016869694.1:p.Asp287Glu
XM_024447380.1:c.861C>G	XP_024303148.1:p.Asp287Glu
XM_024447381.1:c.1167C>G	XP_024303149.1:p.Asp389Glu
XM_024447382.1:c.861C>G	XP_024303150.1:p.Asp287Glu
XR_001746160.2:n.2162C>G
XR_001746162.2:n.2367C>G
XR_001746164.1:n.2084C>G
XR_001746166.2:n.2379C>G
NM_001077365.2:c.1992C>G MANE Select	NP_001070833.1:p.Asp664Glu
NM_001077366.2:c.1830C>G	NP_001070834.1:p.Asp610Glu
NM_001136113.2:c.1992C>G	NP_001129585.1:p.Asp664Glu
NM_001136114.2:c.1641C>G	NP_001129586.1:p.Asp547Glu
NM_001353193.2:c.2058C>G	NP_001340122.2:p.Asp686Glu
NM_001353194.2:c.1830C>G	NP_001340123.1:p.Asp610Glu
NM_001353195.2:c.1641C>G	NP_001340124.1:p.Asp547Glu
NM_001353196.2:c.1902C>G	NP_001340125.1:p.Asp634Glu
NM_001353197.2:c.1896C>G	NP_001340126.2:p.Asp632Glu
NM_001353198.2:c.1896C>G	NP_001340127.2:p.Asp632Glu
NM_001353199.2:c.1707C>G	NP_001340128.2:p.Asp569Glu
NM_001353200.2:c.1536C>G	NP_001340129.1:p.Asp512Glu
NM_001374689.1:c.1980C>G	NP_001361618.1:p.Asp660Glu
NM_001374690.1:c.1773C>G	NP_001361619.1:p.Asp591Glu
NM_001374691.1:c.1641C>G	NP_001361620.1:p.Asp547Glu
NM_001374692.1:c.1641C>G	NP_001361621.1:p.Asp547Glu
NM_001374693.1:c.1641C>G	NP_001361622.1:p.Asp547Glu
NM_001374695.1:c.1602C>G	NP_001361624.1:p.Asp534Glu
NM_007171.4:c.2058C>G	NP_009102.4:p.Asp686Glu
NR_148391.2:n.2026C>G
NR_148392.2:n.2244C>G
NR_148393.2:n.2165C>G
NR_148394.2:n.1919C>G
NR_148395.2:n.2317C>G
NR_148396.2:n.1951C>G
NR_148397.2:n.2076C>G
NR_148398.2:n.2031C>G
NR_148399.2:n.2557C>G
NR_148400.2:n.2156C>G