Canonical Allele Identifier: CA375314471

Gene: POMT1

Linked Data

• dbSNP Id: rs1456593826
• gnomAD v2: 9-134397530-T-G
• gnomAD v4: 9-131522143-T-G
• MyVariant Identifiers: chr9:g.134397530T>G (hg19) ; chr9:g.131522143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522143T>G , CM000671.2:g.131522143T>G	GRCh38
NC_000009.11:g.134397530T>G , CM000671.1:g.134397530T>G	GRCh37
NC_000009.10:g.133387351T>G	NCBI36
NG_008896.1:g.24242T>G
NG_008896.2:g.24242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1760T>G	ENSP00000343034.7:p.Leu587Arg
ENST00000404875.7:n.2462T>G
ENST00000423007.6:c.1979T>G	ENSP00000404119.2:p.Leu660Arg
ENST00000677295.2:c.*2266T>G	ENSP00000504346.2:n.*2266T>G
ENST00000678264.2:c.*2105T>G	ENSP00000503157.2:n.*2105T>G
ENST00000682070.1:n.2291-59T>G
ENST00000682813.1:n.2326T>G
ENST00000683392.1:n.4573-59T>G
ENST00000683712.1:n.2327T>G
ENST00000683900.1:n.3822T>G
ENST00000684062.1:n.2588T>G
ENST00000684579.1:n.3768T>G
ENST00000684679.1:n.1149T>G
ENST00000341012.12:c.1760T>G	ENSP00000343034.7:p.Leu587Arg
ENST00000372220.5:c.791T>G	ENSP00000361294.5:p.Leu264Arg
ENST00000372228.9:c.1988T>G	ENSP00000361302.3:p.Leu663Arg
ENST00000402686.8:c.1922T>G MANE Select	ENSP00000385797.4:p.Leu641Arg
ENST00000676640.1:c.1922T>G	ENSP00000503281.1:p.Leu641Arg
ENST00000676803.1:c.983T>G	ENSP00000503093.1:p.Leu328Arg
ENST00000676835.1:c.*1137T>G	ENSP00000502911.1:n.*1137T>G
ENST00000677029.1:c.1466T>G	ENSP00000502936.1:p.Leu489Arg
ENST00000677099.1:c.*1632T>G	ENSP00000504553.1:n.*1632T>G
ENST00000677216.1:c.1571T>G	ENSP00000503772.1:p.Leu524Arg
ENST00000677221.1:n.947T>G
ENST00000677295.1:c.*1203-59T>G	ENSP00000504346.1:n.*1203-59T>G
ENST00000677444.1:c.1867T>G
ENST00000677586.1:n.1289T>G
ENST00000677626.1:c.1571T>G	ENSP00000503552.1:p.Leu524Arg
ENST00000677853.1:c.*930T>G	ENSP00000503488.1:n.*930T>G
ENST00000678202.1:n.1081T>G
ENST00000678264.1:c.*1299T>G	ENSP00000503157.1:n.*1299T>G
ENST00000678303.1:c.1832T>G	ENSP00000503696.1:p.Leu611Arg
ENST00000678366.1:c.*2171T>G	ENSP00000504353.1:n.*2171T>G
ENST00000678546.1:c.*1867T>G	ENSP00000503062.1:n.*1867T>G
ENST00000678548.1:c.*2061T>G	ENSP00000503934.1:n.*2061T>G
ENST00000678626.1:n.1758T>G
ENST00000678739.1:c.*2147-59T>G	ENSP00000503806.1:n.*2147-59T>G
ENST00000678833.1:c.*1674T>G	ENSP00000503893.1:n.*1674T>G
ENST00000679023.1:c.1760T>G	ENSP00000503718.1:p.Leu587Arg
ENST00000679076.1:c.1541T>G
ENST00000679111.1:c.*678T>G	ENSP00000504257.1:n.*678T>G
ENST00000679189.1:c.1571T>G	ENSP00000503356.1:p.Leu524Arg
ENST00000341012.11:c.1760T>G	ENSP00000343034.7:p.Leu587Arg
ENST00000372220.4:c.785T>G	ENSP00000361294.4:p.Leu262Arg
ENST00000372228.7:c.1988T>G	ENSP00000361302.3:p.Leu663Arg
ENST00000402686.7:c.1922T>G	ENSP00000385797.3:p.Leu641Arg
ENST00000404875.6:c.1571T>G	ENSP00000384531.2:p.Leu524Arg
ENST00000423007.5:c.1922T>G	ENSP00000404119.1:p.Leu641Arg
ENST00000485278.5:n.2472T>G
ENST00000494883.1:n.465T>G
NM_001077365.1:c.1922T>G	NP_001070833.1:p.Leu641Arg
NM_001077366.1:c.1760T>G	NP_001070834.1:p.Leu587Arg
NM_001136113.1:c.1922T>G	NP_001129585.1:p.Leu641Arg
NM_001136114.1:c.1571T>G	NP_001129586.1:p.Leu524Arg
NM_007171.3:c.1988T>G	NP_009102.3:p.Leu663Arg
XM_005272156.1:c.1988T>G	XP_005272213.1:p.Leu663Arg
XM_005272158.1:c.1826T>G	XP_005272215.1:p.Leu609Arg
XM_005272159.1:c.1637T>G	XP_005272216.1:p.Leu546Arg
XM_005272162.1:c.791T>G	XP_005272219.1:p.Leu264Arg
XM_006716932.1:c.1637T>G	XP_006716995.1:p.Leu546Arg
XM_011518140.1:c.1841T>G	XP_011516442.1:p.Leu614Arg
XM_011518141.1:c.1775T>G	XP_011516443.1:p.Leu592Arg
XM_011518142.1:c.1679T>G	XP_011516444.1:p.Leu560Arg
XM_011518143.1:c.1673T>G	XP_011516445.1:p.Leu558Arg
XM_011518145.1:c.1532T>G	XP_011516447.1:p.Leu511Arg
XM_011518147.1:c.860T>G	XP_011516449.1:p.Leu287Arg
XR_929703.1:n.2164T>G
NM_001353193.1:c.1988T>G	NP_001340122.1:p.Leu663Arg
NM_001353194.1:c.1760T>G	NP_001340123.1:p.Leu587Arg
NM_001353195.1:c.1571T>G	NP_001340124.1:p.Leu524Arg
NM_001353196.1:c.1832T>G	NP_001340125.1:p.Leu611Arg
NM_001353197.1:c.1826T>G	NP_001340126.1:p.Leu609Arg
NM_001353198.1:c.1826T>G	NP_001340127.1:p.Leu609Arg
NM_001353199.1:c.1637T>G	NP_001340128.1:p.Leu546Arg
NM_001353200.1:c.1466T>G	NP_001340129.1:p.Leu489Arg
NR_148391.1:n.1972T>G
NR_148392.1:n.2190T>G
NR_148393.1:n.2111T>G
NR_148394.1:n.1865T>G
NR_148395.1:n.2263T>G
NR_148396.1:n.1897T>G
NR_148397.1:n.2022T>G
NR_148398.1:n.1977T>G
NR_148399.1:n.2503T>G
NR_148400.1:n.2102T>G
XM_005272162.3:c.791T>G	XP_005272219.1:p.Leu264Arg
XM_006716932.2:c.1637T>G	XP_006716995.1:p.Leu546Arg
XM_011518140.2:c.1841T>G	XP_011516442.1:p.Leu614Arg
XM_011518141.2:c.1775T>G	XP_011516443.1:p.Leu592Arg
XM_011518142.2:c.1679T>G	XP_011516444.1:p.Leu560Arg
XM_011518143.2:c.1673T>G	XP_011516445.1:p.Leu558Arg
XM_011518145.2:c.1532T>G	XP_011516447.1:p.Leu511Arg
XM_017014205.2:c.791T>G	XP_016869694.1:p.Leu264Arg
XM_024447380.1:c.791T>G	XP_024303148.1:p.Leu264Arg
XM_024447381.1:c.1097T>G	XP_024303149.1:p.Leu366Arg
XM_024447382.1:c.791T>G	XP_024303150.1:p.Leu264Arg
XR_001746160.2:n.2092T>G
XR_001746162.2:n.2297T>G
XR_001746164.1:n.2014T>G
XR_001746166.2:n.2309T>G
NM_001077365.2:c.1922T>G MANE Select	NP_001070833.1:p.Leu641Arg
NM_001077366.2:c.1760T>G	NP_001070834.1:p.Leu587Arg
NM_001136113.2:c.1922T>G	NP_001129585.1:p.Leu641Arg
NM_001136114.2:c.1571T>G	NP_001129586.1:p.Leu524Arg
NM_001353193.2:c.1988T>G	NP_001340122.2:p.Leu663Arg
NM_001353194.2:c.1760T>G	NP_001340123.1:p.Leu587Arg
NM_001353195.2:c.1571T>G	NP_001340124.1:p.Leu524Arg
NM_001353196.2:c.1832T>G	NP_001340125.1:p.Leu611Arg
NM_001353197.2:c.1826T>G	NP_001340126.2:p.Leu609Arg
NM_001353198.2:c.1826T>G	NP_001340127.2:p.Leu609Arg
NM_001353199.2:c.1637T>G	NP_001340128.2:p.Leu546Arg
NM_001353200.2:c.1466T>G	NP_001340129.1:p.Leu489Arg
NM_001374689.1:c.1910T>G	NP_001361618.1:p.Leu637Arg
NM_001374690.1:c.1703T>G	NP_001361619.1:p.Leu568Arg
NM_001374691.1:c.1571T>G	NP_001361620.1:p.Leu524Arg
NM_001374692.1:c.1571T>G	NP_001361621.1:p.Leu524Arg
NM_001374693.1:c.1571T>G	NP_001361622.1:p.Leu524Arg
NM_001374695.1:c.1532T>G	NP_001361624.1:p.Leu511Arg
NM_007171.4:c.1988T>G	NP_009102.4:p.Leu663Arg
NR_148391.2:n.1956T>G
NR_148392.2:n.2174T>G
NR_148393.2:n.2095T>G
NR_148394.2:n.1849T>G
NR_148395.2:n.2247T>G
NR_148396.2:n.1881T>G
NR_148397.2:n.2006T>G
NR_148398.2:n.1961T>G
NR_148399.2:n.2487T>G
NR_148400.2:n.2086T>G