Canonical Allele Identifier: CA375314909

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522939-C-T
• MyVariant Identifiers: chr9:g.134398326C>T (hg19) ; chr9:g.131522939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522939C>T , CM000671.2:g.131522939C>T	GRCh38
NC_000009.11:g.134398326C>T , CM000671.1:g.134398326C>T	GRCh37
NC_000009.10:g.133388147C>T	NCBI36
NG_008896.1:g.25038C>T
NG_008896.2:g.25038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1849C>T	ENSP00000343034.7:p.Leu617Phe
ENST00000404875.7:n.2551C>T
ENST00000423007.6:c.2068C>T	ENSP00000404119.2:p.Leu690Phe
ENST00000677295.2:c.*2355C>T	ENSP00000504346.2:n.*2355C>T
ENST00000678264.2:c.*2194C>T	ENSP00000503157.2:n.*2194C>T
ENST00000682070.1:n.2321C>T
ENST00000682639.1:c.8C>T
ENST00000682813.1:n.2408C>T
ENST00000683231.1:c.8C>T
ENST00000683392.1:n.4603C>T
ENST00000683712.1:n.2416C>T
ENST00000683900.1:n.3911C>T
ENST00000684062.1:n.2677C>T
ENST00000684399.1:c.8C>T
ENST00000684579.1:n.3857C>T
ENST00000341012.12:c.1849C>T	ENSP00000343034.7:p.Leu617Phe
ENST00000372220.5:c.880C>T	ENSP00000361294.5:p.Leu294Phe
ENST00000372228.9:c.2077C>T	ENSP00000361302.3:p.Leu693Phe
ENST00000402686.8:c.2011C>T MANE Select	ENSP00000385797.4:p.Leu671Phe
ENST00000676640.1:c.2011C>T	ENSP00000503281.1:p.Leu671Phe
ENST00000676803.1:c.1072C>T	ENSP00000503093.1:p.Leu358Phe
ENST00000676835.1:c.*1226C>T	ENSP00000502911.1:n.*1226C>T
ENST00000677029.1:c.1555C>T	ENSP00000502936.1:p.Leu519Phe
ENST00000677099.1:c.*1721C>T	ENSP00000504553.1:n.*1721C>T
ENST00000677216.1:c.1660C>T	ENSP00000503772.1:p.Leu554Phe
ENST00000677221.1:n.1036C>T
ENST00000677295.1:c.*1233C>T	ENSP00000504346.1:n.*1233C>T
ENST00000677444.1:c.1956C>T
ENST00000677586.1:n.1378C>T
ENST00000677626.1:c.1660C>T	ENSP00000503552.1:p.Leu554Phe
ENST00000677853.1:c.*1019C>T	ENSP00000503488.1:n.*1019C>T
ENST00000678264.1:c.*1388C>T	ENSP00000503157.1:n.*1388C>T
ENST00000678303.1:c.1921C>T	ENSP00000503696.1:p.Leu641Phe
ENST00000678366.1:c.*2260C>T	ENSP00000504353.1:n.*2260C>T
ENST00000678546.1:c.*1956C>T	ENSP00000503062.1:n.*1956C>T
ENST00000678548.1:c.*2150C>T	ENSP00000503934.1:n.*2150C>T
ENST00000678626.1:n.1847C>T
ENST00000678739.1:c.*2177C>T	ENSP00000503806.1:n.*2177C>T
ENST00000678833.1:c.*1763C>T	ENSP00000503893.1:n.*1763C>T
ENST00000679023.1:c.1849C>T	ENSP00000503718.1:p.Leu617Phe
ENST00000679076.1:c.1630C>T
ENST00000679111.1:c.*767C>T	ENSP00000504257.1:n.*767C>T
ENST00000679189.1:c.1660C>T	ENSP00000503356.1:p.Leu554Phe
ENST00000341012.11:c.1849C>T	ENSP00000343034.7:p.Leu617Phe
ENST00000372220.4:c.874C>T	ENSP00000361294.4:p.Leu292Phe
ENST00000372228.7:c.2077C>T	ENSP00000361302.3:p.Leu693Phe
ENST00000402686.7:c.2011C>T	ENSP00000385797.3:p.Leu671Phe
ENST00000404875.6:c.1660C>T	ENSP00000384531.2:p.Leu554Phe
ENST00000423007.5:c.2011C>T	ENSP00000404119.1:p.Leu671Phe
ENST00000485278.5:n.2561C>T
NM_001077365.1:c.2011C>T	NP_001070833.1:p.Leu671Phe
NM_001077366.1:c.1849C>T	NP_001070834.1:p.Leu617Phe
NM_001136113.1:c.2011C>T	NP_001129585.1:p.Leu671Phe
NM_001136114.1:c.1660C>T	NP_001129586.1:p.Leu554Phe
NM_007171.3:c.2077C>T	NP_009102.3:p.Leu693Phe
XM_005272156.1:c.2077C>T	XP_005272213.1:p.Leu693Phe
XM_005272158.1:c.1915C>T	XP_005272215.1:p.Leu639Phe
XM_005272159.1:c.1726C>T	XP_005272216.1:p.Leu576Phe
XM_005272162.1:c.880C>T	XP_005272219.1:p.Leu294Phe
XM_006716932.1:c.1726C>T	XP_006716995.1:p.Leu576Phe
XM_011518140.1:c.1930C>T	XP_011516442.1:p.Leu644Phe
XM_011518141.1:c.1864C>T	XP_011516443.1:p.Leu622Phe
XM_011518142.1:c.1768C>T	XP_011516444.1:p.Leu590Phe
XM_011518143.1:c.1762C>T	XP_011516445.1:p.Leu588Phe
XM_011518145.1:c.1621C>T	XP_011516447.1:p.Leu541Phe
XM_011518147.1:c.949C>T	XP_011516449.1:p.Leu317Phe
XR_929703.1:n.2253C>T
NM_001353193.1:c.2077C>T	NP_001340122.1:p.Leu693Phe
NM_001353194.1:c.1849C>T	NP_001340123.1:p.Leu617Phe
NM_001353195.1:c.1660C>T	NP_001340124.1:p.Leu554Phe
NM_001353196.1:c.1921C>T	NP_001340125.1:p.Leu641Phe
NM_001353197.1:c.1915C>T	NP_001340126.1:p.Leu639Phe
NM_001353198.1:c.1915C>T	NP_001340127.1:p.Leu639Phe
NM_001353199.1:c.1726C>T	NP_001340128.1:p.Leu576Phe
NM_001353200.1:c.1555C>T	NP_001340129.1:p.Leu519Phe
NR_148391.1:n.2061C>T
NR_148392.1:n.2279C>T
NR_148393.1:n.2200C>T
NR_148394.1:n.1954C>T
NR_148395.1:n.2352C>T
NR_148396.1:n.1986C>T
NR_148397.1:n.2111C>T
NR_148398.1:n.2066C>T
NR_148399.1:n.2592C>T
NR_148400.1:n.2191C>T
XM_005272162.3:c.880C>T	XP_005272219.1:p.Leu294Phe
XM_006716932.2:c.1726C>T	XP_006716995.1:p.Leu576Phe
XM_011518140.2:c.1930C>T	XP_011516442.1:p.Leu644Phe
XM_011518141.2:c.1864C>T	XP_011516443.1:p.Leu622Phe
XM_011518142.2:c.1768C>T	XP_011516444.1:p.Leu590Phe
XM_011518143.2:c.1762C>T	XP_011516445.1:p.Leu588Phe
XM_011518145.2:c.1621C>T	XP_011516447.1:p.Leu541Phe
XM_017014205.2:c.880C>T	XP_016869694.1:p.Leu294Phe
XM_024447380.1:c.880C>T	XP_024303148.1:p.Leu294Phe
XM_024447381.1:c.1186C>T	XP_024303149.1:p.Leu396Phe
XM_024447382.1:c.880C>T	XP_024303150.1:p.Leu294Phe
XR_001746160.2:n.2181C>T
XR_001746162.2:n.2386C>T
XR_001746164.1:n.2103C>T
XR_001746166.2:n.2398C>T
NM_001077365.2:c.2011C>T MANE Select	NP_001070833.1:p.Leu671Phe
NM_001077366.2:c.1849C>T	NP_001070834.1:p.Leu617Phe
NM_001136113.2:c.2011C>T	NP_001129585.1:p.Leu671Phe
NM_001136114.2:c.1660C>T	NP_001129586.1:p.Leu554Phe
NM_001353193.2:c.2077C>T	NP_001340122.2:p.Leu693Phe
NM_001353194.2:c.1849C>T	NP_001340123.1:p.Leu617Phe
NM_001353195.2:c.1660C>T	NP_001340124.1:p.Leu554Phe
NM_001353196.2:c.1921C>T	NP_001340125.1:p.Leu641Phe
NM_001353197.2:c.1915C>T	NP_001340126.2:p.Leu639Phe
NM_001353198.2:c.1915C>T	NP_001340127.2:p.Leu639Phe
NM_001353199.2:c.1726C>T	NP_001340128.2:p.Leu576Phe
NM_001353200.2:c.1555C>T	NP_001340129.1:p.Leu519Phe
NM_001374689.1:c.1999C>T	NP_001361618.1:p.Leu667Phe
NM_001374690.1:c.1792C>T	NP_001361619.1:p.Leu598Phe
NM_001374691.1:c.1660C>T	NP_001361620.1:p.Leu554Phe
NM_001374692.1:c.1660C>T	NP_001361621.1:p.Leu554Phe
NM_001374693.1:c.1660C>T	NP_001361622.1:p.Leu554Phe
NM_001374695.1:c.1621C>T	NP_001361624.1:p.Leu541Phe
NM_007171.4:c.2077C>T	NP_009102.4:p.Leu693Phe
NR_148391.2:n.2045C>T
NR_148392.2:n.2263C>T
NR_148393.2:n.2184C>T
NR_148394.2:n.1938C>T
NR_148395.2:n.2336C>T
NR_148396.2:n.1970C>T
NR_148397.2:n.2095C>T
NR_148398.2:n.2050C>T
NR_148399.2:n.2576C>T
NR_148400.2:n.2175C>T