Canonical Allele Identifier: CA375314593

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397562A>C (hg19) ; chr9:g.131522175A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522175A>C , CM000671.2:g.131522175A>C	GRCh38
NC_000009.11:g.134397562A>C , CM000671.1:g.134397562A>C	GRCh37
NC_000009.10:g.133387383A>C	NCBI36
NG_008896.1:g.24274A>C
NG_008896.2:g.24274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1792A>C	ENSP00000343034.7:p.Ile598Leu
ENST00000404875.7:n.2494A>C
ENST00000423007.6:c.2011A>C	ENSP00000404119.2:p.Ile671Leu
ENST00000677295.2:c.*2298A>C	ENSP00000504346.2:n.*2298A>C
ENST00000678264.2:c.*2137A>C	ENSP00000503157.2:n.*2137A>C
ENST00000682070.1:n.2291-27A>C
ENST00000682813.1:n.2358A>C
ENST00000683392.1:n.4573-27A>C
ENST00000683712.1:n.2359A>C
ENST00000683900.1:n.3854A>C
ENST00000684062.1:n.2620A>C
ENST00000684579.1:n.3800A>C
ENST00000684679.1:n.1181A>C
ENST00000341012.12:c.1792A>C	ENSP00000343034.7:p.Ile598Leu
ENST00000372220.5:c.823A>C	ENSP00000361294.5:p.Ile275Leu
ENST00000372228.9:c.2020A>C	ENSP00000361302.3:p.Ile674Leu
ENST00000402686.8:c.1954A>C MANE Select	ENSP00000385797.4:p.Ile652Leu
ENST00000676640.1:c.1954A>C	ENSP00000503281.1:p.Ile652Leu
ENST00000676803.1:c.1015A>C	ENSP00000503093.1:p.Ile339Leu
ENST00000676835.1:c.*1169A>C	ENSP00000502911.1:n.*1169A>C
ENST00000677029.1:c.1498A>C	ENSP00000502936.1:p.Ile500Leu
ENST00000677099.1:c.*1664A>C	ENSP00000504553.1:n.*1664A>C
ENST00000677216.1:c.1603A>C	ENSP00000503772.1:p.Ile535Leu
ENST00000677221.1:n.979A>C
ENST00000677295.1:c.*1203-27A>C	ENSP00000504346.1:n.*1203-27A>C
ENST00000677444.1:c.1899A>C
ENST00000677586.1:n.1321A>C
ENST00000677626.1:c.1603A>C	ENSP00000503552.1:p.Ile535Leu
ENST00000677853.1:c.*962A>C	ENSP00000503488.1:n.*962A>C
ENST00000678202.1:n.1113A>C
ENST00000678264.1:c.*1331A>C	ENSP00000503157.1:n.*1331A>C
ENST00000678303.1:c.1864A>C	ENSP00000503696.1:p.Ile622Leu
ENST00000678366.1:c.*2203A>C	ENSP00000504353.1:n.*2203A>C
ENST00000678546.1:c.*1899A>C	ENSP00000503062.1:n.*1899A>C
ENST00000678548.1:c.*2093A>C	ENSP00000503934.1:n.*2093A>C
ENST00000678626.1:n.1790A>C
ENST00000678739.1:c.*2147-27A>C	ENSP00000503806.1:n.*2147-27A>C
ENST00000678833.1:c.*1706A>C	ENSP00000503893.1:n.*1706A>C
ENST00000679023.1:c.1792A>C	ENSP00000503718.1:p.Ile598Leu
ENST00000679076.1:c.1573A>C
ENST00000679111.1:c.*710A>C	ENSP00000504257.1:n.*710A>C
ENST00000679189.1:c.1603A>C	ENSP00000503356.1:p.Ile535Leu
ENST00000341012.11:c.1792A>C	ENSP00000343034.7:p.Ile598Leu
ENST00000372220.4:c.817A>C	ENSP00000361294.4:p.Ile273Leu
ENST00000372228.7:c.2020A>C	ENSP00000361302.3:p.Ile674Leu
ENST00000402686.7:c.1954A>C	ENSP00000385797.3:p.Ile652Leu
ENST00000404875.6:c.1603A>C	ENSP00000384531.2:p.Ile535Leu
ENST00000423007.5:c.1954A>C	ENSP00000404119.1:p.Ile652Leu
ENST00000485278.5:n.2504A>C
ENST00000494883.1:n.497A>C
NM_001077365.1:c.1954A>C	NP_001070833.1:p.Ile652Leu
NM_001077366.1:c.1792A>C	NP_001070834.1:p.Ile598Leu
NM_001136113.1:c.1954A>C	NP_001129585.1:p.Ile652Leu
NM_001136114.1:c.1603A>C	NP_001129586.1:p.Ile535Leu
NM_007171.3:c.2020A>C	NP_009102.3:p.Ile674Leu
XM_005272156.1:c.2020A>C	XP_005272213.1:p.Ile674Leu
XM_005272158.1:c.1858A>C	XP_005272215.1:p.Ile620Leu
XM_005272159.1:c.1669A>C	XP_005272216.1:p.Ile557Leu
XM_005272162.1:c.823A>C	XP_005272219.1:p.Ile275Leu
XM_006716932.1:c.1669A>C	XP_006716995.1:p.Ile557Leu
XM_011518140.1:c.1873A>C	XP_011516442.1:p.Ile625Leu
XM_011518141.1:c.1807A>C	XP_011516443.1:p.Ile603Leu
XM_011518142.1:c.1711A>C	XP_011516444.1:p.Ile571Leu
XM_011518143.1:c.1705A>C	XP_011516445.1:p.Ile569Leu
XM_011518145.1:c.1564A>C	XP_011516447.1:p.Ile522Leu
XM_011518147.1:c.892A>C	XP_011516449.1:p.Ile298Leu
XR_929703.1:n.2196A>C
NM_001353193.1:c.2020A>C	NP_001340122.1:p.Ile674Leu
NM_001353194.1:c.1792A>C	NP_001340123.1:p.Ile598Leu
NM_001353195.1:c.1603A>C	NP_001340124.1:p.Ile535Leu
NM_001353196.1:c.1864A>C	NP_001340125.1:p.Ile622Leu
NM_001353197.1:c.1858A>C	NP_001340126.1:p.Ile620Leu
NM_001353198.1:c.1858A>C	NP_001340127.1:p.Ile620Leu
NM_001353199.1:c.1669A>C	NP_001340128.1:p.Ile557Leu
NM_001353200.1:c.1498A>C	NP_001340129.1:p.Ile500Leu
NR_148391.1:n.2004A>C
NR_148392.1:n.2222A>C
NR_148393.1:n.2143A>C
NR_148394.1:n.1897A>C
NR_148395.1:n.2295A>C
NR_148396.1:n.1929A>C
NR_148397.1:n.2054A>C
NR_148398.1:n.2009A>C
NR_148399.1:n.2535A>C
NR_148400.1:n.2134A>C
XM_005272162.3:c.823A>C	XP_005272219.1:p.Ile275Leu
XM_006716932.2:c.1669A>C	XP_006716995.1:p.Ile557Leu
XM_011518140.2:c.1873A>C	XP_011516442.1:p.Ile625Leu
XM_011518141.2:c.1807A>C	XP_011516443.1:p.Ile603Leu
XM_011518142.2:c.1711A>C	XP_011516444.1:p.Ile571Leu
XM_011518143.2:c.1705A>C	XP_011516445.1:p.Ile569Leu
XM_011518145.2:c.1564A>C	XP_011516447.1:p.Ile522Leu
XM_017014205.2:c.823A>C	XP_016869694.1:p.Ile275Leu
XM_024447380.1:c.823A>C	XP_024303148.1:p.Ile275Leu
XM_024447381.1:c.1129A>C	XP_024303149.1:p.Ile377Leu
XM_024447382.1:c.823A>C	XP_024303150.1:p.Ile275Leu
XR_001746160.2:n.2124A>C
XR_001746162.2:n.2329A>C
XR_001746164.1:n.2046A>C
XR_001746166.2:n.2341A>C
NM_001077365.2:c.1954A>C MANE Select	NP_001070833.1:p.Ile652Leu
NM_001077366.2:c.1792A>C	NP_001070834.1:p.Ile598Leu
NM_001136113.2:c.1954A>C	NP_001129585.1:p.Ile652Leu
NM_001136114.2:c.1603A>C	NP_001129586.1:p.Ile535Leu
NM_001353193.2:c.2020A>C	NP_001340122.2:p.Ile674Leu
NM_001353194.2:c.1792A>C	NP_001340123.1:p.Ile598Leu
NM_001353195.2:c.1603A>C	NP_001340124.1:p.Ile535Leu
NM_001353196.2:c.1864A>C	NP_001340125.1:p.Ile622Leu
NM_001353197.2:c.1858A>C	NP_001340126.2:p.Ile620Leu
NM_001353198.2:c.1858A>C	NP_001340127.2:p.Ile620Leu
NM_001353199.2:c.1669A>C	NP_001340128.2:p.Ile557Leu
NM_001353200.2:c.1498A>C	NP_001340129.1:p.Ile500Leu
NM_001374689.1:c.1942A>C	NP_001361618.1:p.Ile648Leu
NM_001374690.1:c.1735A>C	NP_001361619.1:p.Ile579Leu
NM_001374691.1:c.1603A>C	NP_001361620.1:p.Ile535Leu
NM_001374692.1:c.1603A>C	NP_001361621.1:p.Ile535Leu
NM_001374693.1:c.1603A>C	NP_001361622.1:p.Ile535Leu
NM_001374695.1:c.1564A>C	NP_001361624.1:p.Ile522Leu
NM_007171.4:c.2020A>C	NP_009102.4:p.Ile674Leu
NR_148391.2:n.1988A>C
NR_148392.2:n.2206A>C
NR_148393.2:n.2127A>C
NR_148394.2:n.1881A>C
NR_148395.2:n.2279A>C
NR_148396.2:n.1913A>C
NR_148397.2:n.2038A>C
NR_148398.2:n.1993A>C
NR_148399.2:n.2519A>C
NR_148400.2:n.2118A>C