Canonical Allele Identifier: CA6988502

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2165482
• ClinVar RCV Id: RCV003090000
• dbSNP Id: rs750033958
• ExAC: 13:52509817 T / C
• gnomAD v2: 13-52509817-T-C
• gnomAD v3: 13-51935681-T-C
• gnomAD v4: 13-51935681-T-C
• MyVariant Identifiers: chr13:g.52509817T>C (hg19) ; chr13:g.51935681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935681T>C , CM000675.2:g.51935681T>C	GRCh38
NC_000013.10:g.52509817T>C , CM000675.1:g.52509817T>C	GRCh37
NC_000013.9:g.51407818T>C	NCBI36
NG_008806.1:g.80814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1686A>G	ENSP00000489512.2:n.*1686A>G
ENST00000673864.2:c.*2780A>G	ENSP00000501045.2:n.*2780A>G
ENST00000674147.2:c.3415A>G	ENSP00000500964.2:p.Ile1139Val
ENST00000242839.10:c.4036A>G MANE Select	ENSP00000242839.5:p.Ile1346Val
ENST00000344297.9:c.3415A>G	ENSP00000342559.5:p.Ile1139Val
ENST00000400366.6:c.3703A>G	ENSP00000383217.3:p.Ile1235Val
ENST00000448424.7:c.3784A>G	ENSP00000416738.3:p.Ile1262Val
ENST00000673696.1:n.1359A>G
ENST00000673772.1:c.3802A>G	ENSP00000501168.1:p.Ile1268Val
ENST00000673867.1:n.4175A>G
ENST00000673923.1:n.902A>G
ENST00000674147.1:c.2971A>G	ENSP00000500964.1:p.Ile991Val
ENST00000242839.8:c.4036A>G	ENSP00000242839.4:p.Ile1346Val
ENST00000344297.8:c.3415A>G	ENSP00000342559.5:p.Ile1139Val
ENST00000400366.5:c.3703A>G	ENSP00000383217.3:p.Ile1235Val
ENST00000400370.8:c.2746A>G	ENSP00000383221.3:p.Ile916Val
ENST00000418097.7:c.3841A>G	ENSP00000393343.2:p.Ile1281Val
ENST00000448424.6:c.3802A>G	ENSP00000416738.2:p.Ile1268Val
ENST00000634296.1:c.1814A>G
ENST00000634308.1:c.*1137A>G	ENSP00000489234.1:n.*1137A>G
ENST00000634620.1:n.4780A>G
ENST00000634810.1:n.3381A>G
ENST00000634844.1:c.3892A>G	ENSP00000489398.1:p.Ile1298Val
NM_000053.3:c.4036A>G	NP_000044.2:p.Ile1346Val
NM_001005918.2:c.3415A>G	NP_001005918.1:p.Ile1139Val
NM_001243182.1:c.3703A>G	NP_001230111.1:p.Ile1235Val
XM_005266423.2:c.3940A>G	XP_005266480.1:p.Ile1314Val
XM_005266424.3:c.3940A>G	XP_005266481.1:p.Ile1314Val
XM_005266427.2:c.3802A>G	XP_005266484.1:p.Ile1268Val
XM_005266428.1:c.3784A>G	XP_005266485.1:p.Ile1262Val
XM_005266430.3:c.4036A>G	XP_005266487.1:p.Ile1346Val
XM_005266431.2:c.4000A>G	XP_005266488.1:p.Ile1334Val
XM_005266432.2:c.3550A>G	XP_005266489.1:p.Ile1184Val
XM_006719837.2:c.3940A>G	XP_006719900.1:p.Ile1314Val
XM_006719838.1:c.1852A>G	XP_006719901.1:p.Ile618Val
XM_006719839.1:c.1669A>G	XP_006719902.1:p.Ile557Val
XM_011535117.1:c.3940A>G	XP_011533419.1:p.Ile1314Val
XM_011535118.1:c.3901A>G	XP_011533420.1:p.Ile1301Val
XM_011535119.1:c.3853A>G	XP_011533421.1:p.Ile1285Val
XM_011535120.1:c.3622A>G	XP_011533422.1:p.Ile1208Val
XM_011535121.1:c.3523A>G	XP_011533423.1:p.Ile1175Val
XM_011535122.1:c.2704A>G	XP_011533424.1:p.Ile902Val
XR_941601.1:n.4255A>G
XR_941602.1:n.4255A>G
XR_941603.1:n.4255A>G
XR_941604.1:n.4255A>G
NM_001330578.1:c.3802A>G	NP_001317507.1:p.Ile1268Val
NM_001330579.1:c.3784A>G	NP_001317508.1:p.Ile1262Val
XM_005266424.4:c.3940A>G	XP_005266481.1:p.Ile1314Val
XM_005266430.4:c.4036A>G	XP_005266487.1:p.Ile1346Val
XM_005266431.4:c.4000A>G	XP_005266488.1:p.Ile1334Val
XM_006719837.3:c.3940A>G	XP_006719900.1:p.Ile1314Val
XM_011535117.3:c.3940A>G	XP_011533419.1:p.Ile1314Val
XM_017020627.1:c.3940A>G	XP_016876116.1:p.Ile1314Val
NM_000053.4:c.4036A>G MANE Select	NP_000044.2:p.Ile1346Val
NM_001005918.3:c.3415A>G	NP_001005918.1:p.Ile1139Val
NM_001330579.2:c.3784A>G	NP_001317508.1:p.Ile1262Val
NM_001243182.2:c.3703A>G	NP_001230111.1:p.Ile1235Val
NM_001330578.2:c.3802A>G	NP_001317507.1:p.Ile1268Val