Canonical Allele Identifier: CA5293708

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2050744
• ClinVar RCV Id: RCV002922062
• dbSNP Id: rs377422156
• ExAC: 9:134394340 C / T
• gnomAD v2: 9-134394340-C-T
• gnomAD v3: 9-131518953-C-T
• gnomAD v4: 9-131518953-C-T
• MyVariant Identifiers: chr9:g.134394340C>T (hg19) ; chr9:g.131518953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518953C>T , CM000671.2:g.131518953C>T	GRCh38
NC_000009.11:g.134394340C>T , CM000671.1:g.134394340C>T	GRCh37
NC_000009.10:g.133384161C>T	NCBI36
NG_008896.1:g.21052C>T
NG_008896.2:g.21052C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1320C>T	ENSP00000343034.7:p.Gly440=
ENST00000404875.7:n.2022C>T
ENST00000423007.6:c.1539C>T	ENSP00000404119.2:p.Gly513=
ENST00000677295.2:c.*1826C>T	ENSP00000504346.2:n.*1826C>T
ENST00000678264.2:c.*1665C>T	ENSP00000503157.2:n.*1665C>T
ENST00000682070.1:n.1947C>T
ENST00000682539.1:c.420C>T
ENST00000682813.1:n.1886C>T
ENST00000683392.1:n.4229C>T
ENST00000683712.1:n.1887C>T
ENST00000683900.1:n.3382C>T
ENST00000684062.1:n.2148C>T
ENST00000684579.1:n.3328C>T
ENST00000684679.1:n.709C>T
ENST00000341012.12:c.1320C>T	ENSP00000343034.7:p.Gly440=
ENST00000372220.5:c.351C>T	ENSP00000361294.5:p.Gly117=
ENST00000372228.9:c.1548C>T	ENSP00000361302.3:p.Gly516=
ENST00000402686.8:c.1482C>T MANE Select	ENSP00000385797.4:p.Gly494=
ENST00000676640.1:c.1482C>T	ENSP00000503281.1:p.Gly494=
ENST00000676803.1:c.657C>T	ENSP00000503093.1:p.Gly219=
ENST00000676835.1:c.*697C>T	ENSP00000502911.1:n.*697C>T
ENST00000677029.1:c.1026C>T	ENSP00000502936.1:p.Gly342=
ENST00000677099.1:c.*1192C>T	ENSP00000504553.1:n.*1192C>T
ENST00000677216.1:c.1131C>T	ENSP00000503772.1:p.Gly377=
ENST00000677221.1:n.507C>T
ENST00000677295.1:c.*859C>T	ENSP00000504346.1:n.*859C>T
ENST00000677444.1:c.1427C>T
ENST00000677586.1:n.963C>T
ENST00000677626.1:c.1131C>T	ENSP00000503552.1:p.Gly377=
ENST00000677677.1:n.1442C>T
ENST00000677853.1:c.*490C>T	ENSP00000503488.1:n.*490C>T
ENST00000678202.1:n.641C>T
ENST00000678264.1:c.*859C>T	ENSP00000503157.1:n.*859C>T
ENST00000678303.1:c.1392C>T	ENSP00000503696.1:p.Gly464=
ENST00000678366.1:c.*1731C>T	ENSP00000504353.1:n.*1731C>T
ENST00000678546.1:c.*1427C>T	ENSP00000503062.1:n.*1427C>T
ENST00000678548.1:c.*1554C>T	ENSP00000503934.1:n.*1554C>T
ENST00000678626.1:n.1318C>T
ENST00000678733.1:c.563C>T
ENST00000678739.1:c.*1808C>T	ENSP00000503806.1:n.*1808C>T
ENST00000678833.1:c.*929C>T	ENSP00000503893.1:n.*929C>T
ENST00000679023.1:c.1320C>T	ENSP00000503718.1:p.Gly440=
ENST00000679076.1:c.1101C>T
ENST00000679111.1:c.*238C>T	ENSP00000504257.1:n.*238C>T
ENST00000679189.1:c.1131C>T	ENSP00000503356.1:p.Gly377=
ENST00000341012.11:c.1320C>T	ENSP00000343034.7:p.Gly440=
ENST00000372220.4:c.345C>T	ENSP00000361294.4:p.Gly115=
ENST00000372228.7:c.1548C>T	ENSP00000361302.3:p.Gly516=
ENST00000402686.7:c.1482C>T	ENSP00000385797.3:p.Gly494=
ENST00000404875.6:c.1131C>T	ENSP00000384531.2:p.Gly377=
ENST00000423007.5:c.1482C>T	ENSP00000404119.1:p.Gly494=
ENST00000467848.1:n.186C>T
ENST00000485278.5:n.2037C>T
NM_001077365.1:c.1482C>T	NP_001070833.1:p.Gly494=
NM_001077366.1:c.1320C>T	NP_001070834.1:p.Gly440=
NM_001136113.1:c.1482C>T	NP_001129585.1:p.Gly494=
NM_001136114.1:c.1131C>T	NP_001129586.1:p.Gly377=
NM_007171.3:c.1548C>T	NP_009102.3:p.Gly516=
XM_005272156.1:c.1548C>T	XP_005272213.1:p.Gly516=
XM_005272158.1:c.1386C>T	XP_005272215.1:p.Gly462=
XM_005272159.1:c.1197C>T	XP_005272216.1:p.Gly399=
XM_005272162.1:c.351C>T	XP_005272219.1:p.Gly117=
XM_006716932.1:c.1197C>T	XP_006716995.1:p.Gly399=
XM_011518140.1:c.1401C>T	XP_011516442.1:p.Gly467=
XM_011518141.1:c.1335C>T	XP_011516443.1:p.Gly445=
XM_011518142.1:c.1239C>T	XP_011516444.1:p.Gly413=
XM_011518143.1:c.1233C>T	XP_011516445.1:p.Gly411=
XM_011518145.1:c.1092C>T	XP_011516447.1:p.Gly364=
XM_011518147.1:c.420C>T	XP_011516449.1:p.Gly140=
XR_929703.1:n.1724C>T
NM_001353193.1:c.1548C>T	NP_001340122.1:p.Gly516=
NM_001353194.1:c.1320C>T	NP_001340123.1:p.Gly440=
NM_001353195.1:c.1131C>T	NP_001340124.1:p.Gly377=
NM_001353196.1:c.1392C>T	NP_001340125.1:p.Gly464=
NM_001353197.1:c.1386C>T	NP_001340126.1:p.Gly462=
NM_001353198.1:c.1386C>T	NP_001340127.1:p.Gly462=
NM_001353199.1:c.1197C>T	NP_001340128.1:p.Gly399=
NM_001353200.1:c.1026C>T	NP_001340129.1:p.Gly342=
NR_148391.1:n.1532C>T
NR_148392.1:n.1750C>T
NR_148393.1:n.1671C>T
NR_148394.1:n.1425C>T
NR_148395.1:n.1823C>T
NR_148396.1:n.1457C>T
NR_148397.1:n.1582C>T
NR_148398.1:n.1537C>T
NR_148399.1:n.2063C>T
NR_148400.1:n.1662C>T
XM_005272162.3:c.351C>T	XP_005272219.1:p.Gly117=
XM_006716932.2:c.1197C>T	XP_006716995.1:p.Gly399=
XM_011518140.2:c.1401C>T	XP_011516442.1:p.Gly467=
XM_011518141.2:c.1335C>T	XP_011516443.1:p.Gly445=
XM_011518142.2:c.1239C>T	XP_011516444.1:p.Gly413=
XM_011518143.2:c.1233C>T	XP_011516445.1:p.Gly411=
XM_011518145.2:c.1092C>T	XP_011516447.1:p.Gly364=
XM_017014205.2:c.351C>T	XP_016869694.1:p.Gly117=
XM_024447380.1:c.351C>T	XP_024303148.1:p.Gly117=
XM_024447381.1:c.657C>T	XP_024303149.1:p.Gly219=
XM_024447382.1:c.351C>T	XP_024303150.1:p.Gly117=
XR_001746160.2:n.1652C>T
XR_001746162.2:n.1857C>T
XR_001746164.1:n.1574C>T
XR_001746166.2:n.1869C>T
NM_001077365.2:c.1482C>T MANE Select	NP_001070833.1:p.Gly494=
NM_001077366.2:c.1320C>T	NP_001070834.1:p.Gly440=
NM_001136113.2:c.1482C>T	NP_001129585.1:p.Gly494=
NM_001136114.2:c.1131C>T	NP_001129586.1:p.Gly377=
NM_001353193.2:c.1548C>T	NP_001340122.2:p.Gly516=
NM_001353194.2:c.1320C>T	NP_001340123.1:p.Gly440=
NM_001353195.2:c.1131C>T	NP_001340124.1:p.Gly377=
NM_001353196.2:c.1392C>T	NP_001340125.1:p.Gly464=
NM_001353197.2:c.1386C>T	NP_001340126.2:p.Gly462=
NM_001353198.2:c.1386C>T	NP_001340127.2:p.Gly462=
NM_001353199.2:c.1197C>T	NP_001340128.2:p.Gly399=
NM_001353200.2:c.1026C>T	NP_001340129.1:p.Gly342=
NM_001374689.1:c.1470C>T	NP_001361618.1:p.Gly490=
NM_001374690.1:c.1365+416C>T	NP_001361619.1:n.1365+416C>T
NM_001374691.1:c.1131C>T	NP_001361620.1:p.Gly377=
NM_001374692.1:c.1131C>T	NP_001361621.1:p.Gly377=
NM_001374693.1:c.1131C>T	NP_001361622.1:p.Gly377=
NM_001374695.1:c.1092C>T	NP_001361624.1:p.Gly364=
NM_007171.4:c.1548C>T	NP_009102.4:p.Gly516=
NR_148391.2:n.1516C>T
NR_148392.2:n.1734C>T
NR_148393.2:n.1655C>T
NR_148394.2:n.1409C>T
NR_148395.2:n.1807C>T
NR_148396.2:n.1441C>T
NR_148397.2:n.1566C>T
NR_148398.2:n.1521C>T
NR_148399.2:n.2047C>T
NR_148400.2:n.1646C>T