Canonical Allele Identifier: CA467424102

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397576T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522189T>C , CM000671.2:g.131522189T>C	GRCh38
NC_000009.11:g.134397576T>C , CM000671.1:g.134397576T>C	GRCh37
NC_000009.10:g.133387397T>C	NCBI36
NG_008896.1:g.24288T>C
NG_008896.2:g.24288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1806T>C	ENSP00000343034.7:p.Pro602=
ENST00000404875.7:n.2508T>C
ENST00000423007.6:c.2025T>C	ENSP00000404119.2:p.Pro675=
ENST00000677295.2:c.*2312T>C	ENSP00000504346.2:n.*2312T>C
ENST00000678264.2:c.*2151T>C	ENSP00000503157.2:n.*2151T>C
ENST00000682070.1:n.2291-13T>C
ENST00000682813.1:n.2372T>C
ENST00000683392.1:n.4573-13T>C
ENST00000683712.1:n.2373T>C
ENST00000683900.1:n.3868T>C
ENST00000684062.1:n.2634T>C
ENST00000684579.1:n.3814T>C
ENST00000684679.1:n.1195T>C
ENST00000341012.12:c.1806T>C	ENSP00000343034.7:p.Pro602=
ENST00000372220.5:c.837T>C	ENSP00000361294.5:p.Pro279=
ENST00000372228.9:c.2034T>C	ENSP00000361302.3:p.Pro678=
ENST00000402686.8:c.1968T>C MANE Select	ENSP00000385797.4:p.Pro656=
ENST00000676640.1:c.1968T>C	ENSP00000503281.1:p.Pro656=
ENST00000676803.1:c.1029T>C	ENSP00000503093.1:p.Pro343=
ENST00000676835.1:c.*1183T>C	ENSP00000502911.1:n.*1183T>C
ENST00000677029.1:c.1512T>C	ENSP00000502936.1:p.Pro504=
ENST00000677099.1:c.*1678T>C	ENSP00000504553.1:n.*1678T>C
ENST00000677216.1:c.1617T>C	ENSP00000503772.1:p.Pro539=
ENST00000677221.1:n.993T>C
ENST00000677295.1:c.*1203-13T>C	ENSP00000504346.1:n.*1203-13T>C
ENST00000677444.1:c.1913T>C
ENST00000677586.1:n.1335T>C
ENST00000677626.1:c.1617T>C	ENSP00000503552.1:p.Pro539=
ENST00000677853.1:c.*976T>C	ENSP00000503488.1:n.*976T>C
ENST00000678202.1:n.1127T>C
ENST00000678264.1:c.*1345T>C	ENSP00000503157.1:n.*1345T>C
ENST00000678303.1:c.1878T>C	ENSP00000503696.1:p.Pro626=
ENST00000678366.1:c.*2217T>C	ENSP00000504353.1:n.*2217T>C
ENST00000678546.1:c.*1913T>C	ENSP00000503062.1:n.*1913T>C
ENST00000678548.1:c.*2107T>C	ENSP00000503934.1:n.*2107T>C
ENST00000678626.1:n.1804T>C
ENST00000678739.1:c.*2147-13T>C	ENSP00000503806.1:n.*2147-13T>C
ENST00000678833.1:c.*1720T>C	ENSP00000503893.1:n.*1720T>C
ENST00000679023.1:c.1806T>C	ENSP00000503718.1:p.Pro602=
ENST00000679076.1:c.1587T>C
ENST00000679111.1:c.*724T>C	ENSP00000504257.1:n.*724T>C
ENST00000679189.1:c.1617T>C	ENSP00000503356.1:p.Pro539=
ENST00000341012.11:c.1806T>C	ENSP00000343034.7:p.Pro602=
ENST00000372220.4:c.831T>C	ENSP00000361294.4:p.Pro277=
ENST00000372228.7:c.2034T>C	ENSP00000361302.3:p.Pro678=
ENST00000402686.7:c.1968T>C	ENSP00000385797.3:p.Pro656=
ENST00000404875.6:c.1617T>C	ENSP00000384531.2:p.Pro539=
ENST00000423007.5:c.1968T>C	ENSP00000404119.1:p.Pro656=
ENST00000485278.5:n.2518T>C
ENST00000494883.1:n.511T>C
NM_001077365.1:c.1968T>C	NP_001070833.1:p.Pro656=
NM_001077366.1:c.1806T>C	NP_001070834.1:p.Pro602=
NM_001136113.1:c.1968T>C	NP_001129585.1:p.Pro656=
NM_001136114.1:c.1617T>C	NP_001129586.1:p.Pro539=
NM_007171.3:c.2034T>C	NP_009102.3:p.Pro678=
XM_005272156.1:c.2034T>C	XP_005272213.1:p.Pro678=
XM_005272158.1:c.1872T>C	XP_005272215.1:p.Pro624=
XM_005272159.1:c.1683T>C	XP_005272216.1:p.Pro561=
XM_005272162.1:c.837T>C	XP_005272219.1:p.Pro279=
XM_006716932.1:c.1683T>C	XP_006716995.1:p.Pro561=
XM_011518140.1:c.1887T>C	XP_011516442.1:p.Pro629=
XM_011518141.1:c.1821T>C	XP_011516443.1:p.Pro607=
XM_011518142.1:c.1725T>C	XP_011516444.1:p.Pro575=
XM_011518143.1:c.1719T>C	XP_011516445.1:p.Pro573=
XM_011518145.1:c.1578T>C	XP_011516447.1:p.Pro526=
XM_011518147.1:c.906T>C	XP_011516449.1:p.Pro302=
XR_929703.1:n.2210T>C
NM_001353193.1:c.2034T>C	NP_001340122.1:p.Pro678=
NM_001353194.1:c.1806T>C	NP_001340123.1:p.Pro602=
NM_001353195.1:c.1617T>C	NP_001340124.1:p.Pro539=
NM_001353196.1:c.1878T>C	NP_001340125.1:p.Pro626=
NM_001353197.1:c.1872T>C	NP_001340126.1:p.Pro624=
NM_001353198.1:c.1872T>C	NP_001340127.1:p.Pro624=
NM_001353199.1:c.1683T>C	NP_001340128.1:p.Pro561=
NM_001353200.1:c.1512T>C	NP_001340129.1:p.Pro504=
NR_148391.1:n.2018T>C
NR_148392.1:n.2236T>C
NR_148393.1:n.2157T>C
NR_148394.1:n.1911T>C
NR_148395.1:n.2309T>C
NR_148396.1:n.1943T>C
NR_148397.1:n.2068T>C
NR_148398.1:n.2023T>C
NR_148399.1:n.2549T>C
NR_148400.1:n.2148T>C
XM_005272162.3:c.837T>C	XP_005272219.1:p.Pro279=
XM_006716932.2:c.1683T>C	XP_006716995.1:p.Pro561=
XM_011518140.2:c.1887T>C	XP_011516442.1:p.Pro629=
XM_011518141.2:c.1821T>C	XP_011516443.1:p.Pro607=
XM_011518142.2:c.1725T>C	XP_011516444.1:p.Pro575=
XM_011518143.2:c.1719T>C	XP_011516445.1:p.Pro573=
XM_011518145.2:c.1578T>C	XP_011516447.1:p.Pro526=
XM_017014205.2:c.837T>C	XP_016869694.1:p.Pro279=
XM_024447380.1:c.837T>C	XP_024303148.1:p.Pro279=
XM_024447381.1:c.1143T>C	XP_024303149.1:p.Pro381=
XM_024447382.1:c.837T>C	XP_024303150.1:p.Pro279=
XR_001746160.2:n.2138T>C
XR_001746162.2:n.2343T>C
XR_001746164.1:n.2060T>C
XR_001746166.2:n.2355T>C
NM_001077365.2:c.1968T>C MANE Select	NP_001070833.1:p.Pro656=
NM_001077366.2:c.1806T>C	NP_001070834.1:p.Pro602=
NM_001136113.2:c.1968T>C	NP_001129585.1:p.Pro656=
NM_001136114.2:c.1617T>C	NP_001129586.1:p.Pro539=
NM_001353193.2:c.2034T>C	NP_001340122.2:p.Pro678=
NM_001353194.2:c.1806T>C	NP_001340123.1:p.Pro602=
NM_001353195.2:c.1617T>C	NP_001340124.1:p.Pro539=
NM_001353196.2:c.1878T>C	NP_001340125.1:p.Pro626=
NM_001353197.2:c.1872T>C	NP_001340126.2:p.Pro624=
NM_001353198.2:c.1872T>C	NP_001340127.2:p.Pro624=
NM_001353199.2:c.1683T>C	NP_001340128.2:p.Pro561=
NM_001353200.2:c.1512T>C	NP_001340129.1:p.Pro504=
NM_001374689.1:c.1956T>C	NP_001361618.1:p.Pro652=
NM_001374690.1:c.1749T>C	NP_001361619.1:p.Pro583=
NM_001374691.1:c.1617T>C	NP_001361620.1:p.Pro539=
NM_001374692.1:c.1617T>C	NP_001361621.1:p.Pro539=
NM_001374693.1:c.1617T>C	NP_001361622.1:p.Pro539=
NM_001374695.1:c.1578T>C	NP_001361624.1:p.Pro526=
NM_007171.4:c.2034T>C	NP_009102.4:p.Pro678=
NR_148391.2:n.2002T>C
NR_148392.2:n.2220T>C
NR_148393.2:n.2141T>C
NR_148394.2:n.1895T>C
NR_148395.2:n.2293T>C
NR_148396.2:n.1927T>C
NR_148397.2:n.2052T>C
NR_148398.2:n.2007T>C
NR_148399.2:n.2533T>C
NR_148400.2:n.2132T>C