Canonical Allele Identifier: CA467424012

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397453G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522066G>C , CM000671.2:g.131522066G>C	GRCh38
NC_000009.11:g.134397453G>C , CM000671.1:g.134397453G>C	GRCh37
NC_000009.10:g.133387274G>C	NCBI36
NG_008896.1:g.24165G>C
NG_008896.2:g.24165G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1683G>C	ENSP00000343034.7:p.Val561=
ENST00000404875.7:n.2385G>C
ENST00000423007.6:c.1902G>C	ENSP00000404119.2:p.Val634=
ENST00000677295.2:c.*2189G>C	ENSP00000504346.2:n.*2189G>C
ENST00000678264.2:c.*2028G>C	ENSP00000503157.2:n.*2028G>C
ENST00000682070.1:n.2291-136G>C
ENST00000682813.1:n.2249G>C
ENST00000683392.1:n.4573-136G>C
ENST00000683712.1:n.2250G>C
ENST00000683900.1:n.3745G>C
ENST00000684062.1:n.2511G>C
ENST00000684579.1:n.3691G>C
ENST00000684679.1:n.1072G>C
ENST00000341012.12:c.1683G>C	ENSP00000343034.7:p.Val561=
ENST00000372220.5:c.714G>C	ENSP00000361294.5:p.Val238=
ENST00000372228.9:c.1911G>C	ENSP00000361302.3:p.Val637=
ENST00000402686.8:c.1845G>C MANE Select	ENSP00000385797.4:p.Val615=
ENST00000676640.1:c.1845G>C	ENSP00000503281.1:p.Val615=
ENST00000676803.1:c.906G>C	ENSP00000503093.1:p.Val302=
ENST00000676835.1:c.*1060G>C	ENSP00000502911.1:n.*1060G>C
ENST00000677029.1:c.1389G>C	ENSP00000502936.1:p.Val463=
ENST00000677099.1:c.*1555G>C	ENSP00000504553.1:n.*1555G>C
ENST00000677216.1:c.1494G>C	ENSP00000503772.1:p.Val498=
ENST00000677221.1:n.870G>C
ENST00000677295.1:c.*1203-136G>C	ENSP00000504346.1:n.*1203-136G>C
ENST00000677444.1:c.1790G>C
ENST00000677586.1:n.1212G>C
ENST00000677626.1:c.1494G>C	ENSP00000503552.1:p.Val498=
ENST00000677853.1:c.*853G>C	ENSP00000503488.1:n.*853G>C
ENST00000678202.1:n.1004G>C
ENST00000678264.1:c.*1222G>C	ENSP00000503157.1:n.*1222G>C
ENST00000678303.1:c.1755G>C	ENSP00000503696.1:p.Val585=
ENST00000678366.1:c.*2094G>C	ENSP00000504353.1:n.*2094G>C
ENST00000678546.1:c.*1790G>C	ENSP00000503062.1:n.*1790G>C
ENST00000678548.1:c.*1984G>C	ENSP00000503934.1:n.*1984G>C
ENST00000678626.1:n.1681G>C
ENST00000678739.1:c.*2147-136G>C	ENSP00000503806.1:n.*2147-136G>C
ENST00000678833.1:c.*1597G>C	ENSP00000503893.1:n.*1597G>C
ENST00000679023.1:c.1683G>C	ENSP00000503718.1:p.Val561=
ENST00000679076.1:c.1464G>C
ENST00000679111.1:c.*601G>C	ENSP00000504257.1:n.*601G>C
ENST00000679189.1:c.1494G>C	ENSP00000503356.1:p.Val498=
ENST00000341012.11:c.1683G>C	ENSP00000343034.7:p.Val561=
ENST00000372220.4:c.708G>C	ENSP00000361294.4:p.Val236=
ENST00000372228.7:c.1911G>C	ENSP00000361302.3:p.Val637=
ENST00000402686.7:c.1845G>C	ENSP00000385797.3:p.Val615=
ENST00000404875.6:c.1494G>C	ENSP00000384531.2:p.Val498=
ENST00000423007.5:c.1845G>C	ENSP00000404119.1:p.Val615=
ENST00000485278.5:n.2395G>C
ENST00000494883.1:n.388G>C
NM_001077365.1:c.1845G>C	NP_001070833.1:p.Val615=
NM_001077366.1:c.1683G>C	NP_001070834.1:p.Val561=
NM_001136113.1:c.1845G>C	NP_001129585.1:p.Val615=
NM_001136114.1:c.1494G>C	NP_001129586.1:p.Val498=
NM_007171.3:c.1911G>C	NP_009102.3:p.Val637=
XM_005272156.1:c.1911G>C	XP_005272213.1:p.Val637=
XM_005272158.1:c.1749G>C	XP_005272215.1:p.Val583=
XM_005272159.1:c.1560G>C	XP_005272216.1:p.Val520=
XM_005272162.1:c.714G>C	XP_005272219.1:p.Val238=
XM_006716932.1:c.1560G>C	XP_006716995.1:p.Val520=
XM_011518140.1:c.1764G>C	XP_011516442.1:p.Val588=
XM_011518141.1:c.1698G>C	XP_011516443.1:p.Val566=
XM_011518142.1:c.1602G>C	XP_011516444.1:p.Val534=
XM_011518143.1:c.1596G>C	XP_011516445.1:p.Val532=
XM_011518145.1:c.1455G>C	XP_011516447.1:p.Val485=
XM_011518147.1:c.783G>C	XP_011516449.1:p.Val261=
XR_929703.1:n.2087G>C
NM_001353193.1:c.1911G>C	NP_001340122.1:p.Val637=
NM_001353194.1:c.1683G>C	NP_001340123.1:p.Val561=
NM_001353195.1:c.1494G>C	NP_001340124.1:p.Val498=
NM_001353196.1:c.1755G>C	NP_001340125.1:p.Val585=
NM_001353197.1:c.1749G>C	NP_001340126.1:p.Val583=
NM_001353198.1:c.1749G>C	NP_001340127.1:p.Val583=
NM_001353199.1:c.1560G>C	NP_001340128.1:p.Val520=
NM_001353200.1:c.1389G>C	NP_001340129.1:p.Val463=
NR_148391.1:n.1895G>C
NR_148392.1:n.2113G>C
NR_148393.1:n.2034G>C
NR_148394.1:n.1788G>C
NR_148395.1:n.2186G>C
NR_148396.1:n.1820G>C
NR_148397.1:n.1945G>C
NR_148398.1:n.1900G>C
NR_148399.1:n.2426G>C
NR_148400.1:n.2025G>C
XM_005272162.3:c.714G>C	XP_005272219.1:p.Val238=
XM_006716932.2:c.1560G>C	XP_006716995.1:p.Val520=
XM_011518140.2:c.1764G>C	XP_011516442.1:p.Val588=
XM_011518141.2:c.1698G>C	XP_011516443.1:p.Val566=
XM_011518142.2:c.1602G>C	XP_011516444.1:p.Val534=
XM_011518143.2:c.1596G>C	XP_011516445.1:p.Val532=
XM_011518145.2:c.1455G>C	XP_011516447.1:p.Val485=
XM_017014205.2:c.714G>C	XP_016869694.1:p.Val238=
XM_024447380.1:c.714G>C	XP_024303148.1:p.Val238=
XM_024447381.1:c.1020G>C	XP_024303149.1:p.Val340=
XM_024447382.1:c.714G>C	XP_024303150.1:p.Val238=
XR_001746160.2:n.2015G>C
XR_001746162.2:n.2220G>C
XR_001746164.1:n.1937G>C
XR_001746166.2:n.2232G>C
NM_001077365.2:c.1845G>C MANE Select	NP_001070833.1:p.Val615=
NM_001077366.2:c.1683G>C	NP_001070834.1:p.Val561=
NM_001136113.2:c.1845G>C	NP_001129585.1:p.Val615=
NM_001136114.2:c.1494G>C	NP_001129586.1:p.Val498=
NM_001353193.2:c.1911G>C	NP_001340122.2:p.Val637=
NM_001353194.2:c.1683G>C	NP_001340123.1:p.Val561=
NM_001353195.2:c.1494G>C	NP_001340124.1:p.Val498=
NM_001353196.2:c.1755G>C	NP_001340125.1:p.Val585=
NM_001353197.2:c.1749G>C	NP_001340126.2:p.Val583=
NM_001353198.2:c.1749G>C	NP_001340127.2:p.Val583=
NM_001353199.2:c.1560G>C	NP_001340128.2:p.Val520=
NM_001353200.2:c.1389G>C	NP_001340129.1:p.Val463=
NM_001374689.1:c.1833G>C	NP_001361618.1:p.Val611=
NM_001374690.1:c.1626G>C	NP_001361619.1:p.Val542=
NM_001374691.1:c.1494G>C	NP_001361620.1:p.Val498=
NM_001374692.1:c.1494G>C	NP_001361621.1:p.Val498=
NM_001374693.1:c.1494G>C	NP_001361622.1:p.Val498=
NM_001374695.1:c.1455G>C	NP_001361624.1:p.Val485=
NM_007171.4:c.1911G>C	NP_009102.4:p.Val637=
NR_148391.2:n.1879G>C
NR_148392.2:n.2097G>C
NR_148393.2:n.2018G>C
NR_148394.2:n.1772G>C
NR_148395.2:n.2170G>C
NR_148396.2:n.1804G>C
NR_148397.2:n.1929G>C
NR_148398.2:n.1884G>C
NR_148399.2:n.2410G>C
NR_148400.2:n.2009G>C