Canonical Allele Identifier: CA375314942

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522947-G-T
• MyVariant Identifiers: chr9:g.134398334G>T (hg19) ; chr9:g.131522947G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522947G>T , CM000671.2:g.131522947G>T	GRCh38
NC_000009.11:g.134398334G>T , CM000671.1:g.134398334G>T	GRCh37
NC_000009.10:g.133388155G>T	NCBI36
NG_008896.1:g.25046G>T
NG_008896.2:g.25046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1857G>T	ENSP00000343034.7:p.Arg619Ser
ENST00000404875.7:n.2559G>T
ENST00000423007.6:c.2076G>T	ENSP00000404119.2:p.Arg692Ser
ENST00000677295.2:c.*2363G>T	ENSP00000504346.2:n.*2363G>T
ENST00000678264.2:c.*2202G>T	ENSP00000503157.2:n.*2202G>T
ENST00000682070.1:n.2329G>T
ENST00000682639.1:c.16G>T
ENST00000682813.1:n.2416G>T
ENST00000683231.1:c.16G>T
ENST00000683392.1:n.4611G>T
ENST00000683712.1:n.2424G>T
ENST00000683900.1:n.3919G>T
ENST00000684062.1:n.2685G>T
ENST00000684399.1:c.16G>T
ENST00000684579.1:n.3865G>T
ENST00000341012.12:c.1857G>T	ENSP00000343034.7:p.Arg619Ser
ENST00000372220.5:c.888G>T	ENSP00000361294.5:p.Arg296Ser
ENST00000372228.9:c.2085G>T	ENSP00000361302.3:p.Arg695Ser
ENST00000402686.8:c.2019G>T MANE Select	ENSP00000385797.4:p.Arg673Ser
ENST00000676640.1:c.2019G>T	ENSP00000503281.1:p.Arg673Ser
ENST00000676803.1:c.1080G>T	ENSP00000503093.1:p.Arg360Ser
ENST00000676835.1:c.*1234G>T	ENSP00000502911.1:n.*1234G>T
ENST00000677029.1:c.1563G>T	ENSP00000502936.1:p.Arg521Ser
ENST00000677099.1:c.*1729G>T	ENSP00000504553.1:n.*1729G>T
ENST00000677216.1:c.1668G>T	ENSP00000503772.1:p.Arg556Ser
ENST00000677221.1:n.1044G>T
ENST00000677295.1:c.*1241G>T	ENSP00000504346.1:n.*1241G>T
ENST00000677444.1:c.1964G>T
ENST00000677586.1:n.1386G>T
ENST00000677626.1:c.1668G>T	ENSP00000503552.1:p.Arg556Ser
ENST00000677853.1:c.*1027G>T	ENSP00000503488.1:n.*1027G>T
ENST00000678264.1:c.*1396G>T	ENSP00000503157.1:n.*1396G>T
ENST00000678303.1:c.1929G>T	ENSP00000503696.1:p.Arg643Ser
ENST00000678366.1:c.*2268G>T	ENSP00000504353.1:n.*2268G>T
ENST00000678546.1:c.*1964G>T	ENSP00000503062.1:n.*1964G>T
ENST00000678548.1:c.*2158G>T	ENSP00000503934.1:n.*2158G>T
ENST00000678626.1:n.1855G>T
ENST00000678739.1:c.*2185G>T	ENSP00000503806.1:n.*2185G>T
ENST00000678833.1:c.*1771G>T	ENSP00000503893.1:n.*1771G>T
ENST00000679023.1:c.1857G>T	ENSP00000503718.1:p.Arg619Ser
ENST00000679076.1:c.1638G>T
ENST00000679111.1:c.*775G>T	ENSP00000504257.1:n.*775G>T
ENST00000679189.1:c.1668G>T	ENSP00000503356.1:p.Arg556Ser
ENST00000341012.11:c.1857G>T	ENSP00000343034.7:p.Arg619Ser
ENST00000372220.4:c.882G>T	ENSP00000361294.4:p.Arg294Ser
ENST00000372228.7:c.2085G>T	ENSP00000361302.3:p.Arg695Ser
ENST00000402686.7:c.2019G>T	ENSP00000385797.3:p.Arg673Ser
ENST00000404875.6:c.1668G>T	ENSP00000384531.2:p.Arg556Ser
ENST00000423007.5:c.2019G>T	ENSP00000404119.1:p.Arg673Ser
ENST00000485278.5:n.2569G>T
NM_001077365.1:c.2019G>T	NP_001070833.1:p.Arg673Ser
NM_001077366.1:c.1857G>T	NP_001070834.1:p.Arg619Ser
NM_001136113.1:c.2019G>T	NP_001129585.1:p.Arg673Ser
NM_001136114.1:c.1668G>T	NP_001129586.1:p.Arg556Ser
NM_007171.3:c.2085G>T	NP_009102.3:p.Arg695Ser
XM_005272156.1:c.2085G>T	XP_005272213.1:p.Arg695Ser
XM_005272158.1:c.1923G>T	XP_005272215.1:p.Arg641Ser
XM_005272159.1:c.1734G>T	XP_005272216.1:p.Arg578Ser
XM_005272162.1:c.888G>T	XP_005272219.1:p.Arg296Ser
XM_006716932.1:c.1734G>T	XP_006716995.1:p.Arg578Ser
XM_011518140.1:c.1938G>T	XP_011516442.1:p.Arg646Ser
XM_011518141.1:c.1872G>T	XP_011516443.1:p.Arg624Ser
XM_011518142.1:c.1776G>T	XP_011516444.1:p.Arg592Ser
XM_011518143.1:c.1770G>T	XP_011516445.1:p.Arg590Ser
XM_011518145.1:c.1629G>T	XP_011516447.1:p.Arg543Ser
XM_011518147.1:c.957G>T	XP_011516449.1:p.Arg319Ser
XR_929703.1:n.2261G>T
NM_001353193.1:c.2085G>T	NP_001340122.1:p.Arg695Ser
NM_001353194.1:c.1857G>T	NP_001340123.1:p.Arg619Ser
NM_001353195.1:c.1668G>T	NP_001340124.1:p.Arg556Ser
NM_001353196.1:c.1929G>T	NP_001340125.1:p.Arg643Ser
NM_001353197.1:c.1923G>T	NP_001340126.1:p.Arg641Ser
NM_001353198.1:c.1923G>T	NP_001340127.1:p.Arg641Ser
NM_001353199.1:c.1734G>T	NP_001340128.1:p.Arg578Ser
NM_001353200.1:c.1563G>T	NP_001340129.1:p.Arg521Ser
NR_148391.1:n.2069G>T
NR_148392.1:n.2287G>T
NR_148393.1:n.2208G>T
NR_148394.1:n.1962G>T
NR_148395.1:n.2360G>T
NR_148396.1:n.1994G>T
NR_148397.1:n.2119G>T
NR_148398.1:n.2074G>T
NR_148399.1:n.2600G>T
NR_148400.1:n.2199G>T
XM_005272162.3:c.888G>T	XP_005272219.1:p.Arg296Ser
XM_006716932.2:c.1734G>T	XP_006716995.1:p.Arg578Ser
XM_011518140.2:c.1938G>T	XP_011516442.1:p.Arg646Ser
XM_011518141.2:c.1872G>T	XP_011516443.1:p.Arg624Ser
XM_011518142.2:c.1776G>T	XP_011516444.1:p.Arg592Ser
XM_011518143.2:c.1770G>T	XP_011516445.1:p.Arg590Ser
XM_011518145.2:c.1629G>T	XP_011516447.1:p.Arg543Ser
XM_017014205.2:c.888G>T	XP_016869694.1:p.Arg296Ser
XM_024447380.1:c.888G>T	XP_024303148.1:p.Arg296Ser
XM_024447381.1:c.1194G>T	XP_024303149.1:p.Arg398Ser
XM_024447382.1:c.888G>T	XP_024303150.1:p.Arg296Ser
XR_001746160.2:n.2189G>T
XR_001746162.2:n.2394G>T
XR_001746164.1:n.2111G>T
XR_001746166.2:n.2406G>T
NM_001077365.2:c.2019G>T MANE Select	NP_001070833.1:p.Arg673Ser
NM_001077366.2:c.1857G>T	NP_001070834.1:p.Arg619Ser
NM_001136113.2:c.2019G>T	NP_001129585.1:p.Arg673Ser
NM_001136114.2:c.1668G>T	NP_001129586.1:p.Arg556Ser
NM_001353193.2:c.2085G>T	NP_001340122.2:p.Arg695Ser
NM_001353194.2:c.1857G>T	NP_001340123.1:p.Arg619Ser
NM_001353195.2:c.1668G>T	NP_001340124.1:p.Arg556Ser
NM_001353196.2:c.1929G>T	NP_001340125.1:p.Arg643Ser
NM_001353197.2:c.1923G>T	NP_001340126.2:p.Arg641Ser
NM_001353198.2:c.1923G>T	NP_001340127.2:p.Arg641Ser
NM_001353199.2:c.1734G>T	NP_001340128.2:p.Arg578Ser
NM_001353200.2:c.1563G>T	NP_001340129.1:p.Arg521Ser
NM_001374689.1:c.2007G>T	NP_001361618.1:p.Arg669Ser
NM_001374690.1:c.1800G>T	NP_001361619.1:p.Arg600Ser
NM_001374691.1:c.1668G>T	NP_001361620.1:p.Arg556Ser
NM_001374692.1:c.1668G>T	NP_001361621.1:p.Arg556Ser
NM_001374693.1:c.1668G>T	NP_001361622.1:p.Arg556Ser
NM_001374695.1:c.1629G>T	NP_001361624.1:p.Arg543Ser
NM_007171.4:c.2085G>T	NP_009102.4:p.Arg695Ser
NR_148391.2:n.2053G>T
NR_148392.2:n.2271G>T
NR_148393.2:n.2192G>T
NR_148394.2:n.1946G>T
NR_148395.2:n.2344G>T
NR_148396.2:n.1978G>T
NR_148397.2:n.2103G>T
NR_148398.2:n.2058G>T
NR_148399.2:n.2584G>T
NR_148400.2:n.2183G>T