Canonical Allele Identifier: CA388034548

Gene: ATP7B

Linked Data

• dbSNP Id: rs1186544838
• gnomAD v2: 13-52524220-T-C
• gnomAD v4: 13-51950084-T-C
• MyVariant Identifiers: chr13:g.52524220T>C (hg19) ; chr13:g.51950084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950084T>C , CM000675.2:g.51950084T>C	GRCh38
NC_000013.10:g.52524220T>C , CM000675.1:g.52524220T>C	GRCh37
NC_000013.9:g.51422221T>C	NCBI36
NG_008806.1:g.66411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*486A>G	ENSP00000489512.2:n.*486A>G
ENST00000673864.2:c.*1397A>G	ENSP00000501045.2:n.*1397A>G
ENST00000674147.2:c.2167A>G	ENSP00000500964.2:p.Ile723Val
ENST00000242839.10:c.2653A>G MANE Select	ENSP00000242839.5:p.Ile885Val
ENST00000344297.9:c.2167A>G	ENSP00000342559.5:p.Ile723Val
ENST00000400366.6:c.2320A>G	ENSP00000383217.3:p.Ile774Val
ENST00000448424.7:c.2401A>G	ENSP00000416738.3:p.Ile801Val
ENST00000673772.1:c.2419A>G	ENSP00000501168.1:p.Ile807Val
ENST00000674147.1:c.1723A>G	ENSP00000500964.1:p.Ile575Val
ENST00000242839.8:c.2653A>G	ENSP00000242839.4:p.Ile885Val
ENST00000344297.8:c.2167A>G	ENSP00000342559.5:p.Ile723Val
ENST00000400366.5:c.2320A>G	ENSP00000383217.3:p.Ile774Val
ENST00000400370.8:c.1363A>G	ENSP00000383221.3:p.Ile455Val
ENST00000418097.7:c.2653A>G	ENSP00000393343.2:p.Ile885Val
ENST00000448424.6:c.2419A>G	ENSP00000416738.2:p.Ile807Val
ENST00000634296.1:c.614A>G
ENST00000634308.1:c.2419A>G	ENSP00000489234.1:p.Ile807Val
ENST00000634620.1:n.3451A>G
ENST00000634810.1:n.1998A>G
ENST00000634844.1:c.2509A>G	ENSP00000489398.1:p.Ile837Val
ENST00000635406.1:n.212-3606A>G
NM_000053.3:c.2653A>G	NP_000044.2:p.Ile885Val
NM_001005918.2:c.2167A>G	NP_001005918.1:p.Ile723Val
NM_001243182.1:c.2320A>G	NP_001230111.1:p.Ile774Val
XM_005266423.2:c.2557A>G	XP_005266480.1:p.Ile853Val
XM_005266424.3:c.2557A>G	XP_005266481.1:p.Ile853Val
XM_005266427.2:c.2419A>G	XP_005266484.1:p.Ile807Val
XM_005266428.1:c.2401A>G	XP_005266485.1:p.Ile801Val
XM_005266430.3:c.2653A>G	XP_005266487.1:p.Ile885Val
XM_005266431.2:c.2617A>G	XP_005266488.1:p.Ile873Val
XM_005266432.2:c.2167A>G	XP_005266489.1:p.Ile723Val
XM_006719837.2:c.2557A>G	XP_006719900.1:p.Ile853Val
XM_006719838.1:c.469A>G	XP_006719901.1:p.Ile157Val
XM_006719839.1:c.469A>G	XP_006719902.1:p.Ile157Val
XM_011535117.1:c.2557A>G	XP_011533419.1:p.Ile853Val
XM_011535118.1:c.2653A>G	XP_011533420.1:p.Ile885Val
XM_011535119.1:c.2653A>G	XP_011533421.1:p.Ile885Val
XM_011535120.1:c.2239A>G	XP_011533422.1:p.Ile747Val
XM_011535121.1:c.2653A>G	XP_011533423.1:p.Ile885Val
XM_011535122.1:c.1321A>G	XP_011533424.1:p.Ile441Val
XR_941601.1:n.2872A>G
XR_941602.1:n.2872A>G
XR_941603.1:n.2872A>G
XR_941604.1:n.2872A>G
NM_001330578.1:c.2419A>G	NP_001317507.1:p.Ile807Val
NM_001330579.1:c.2401A>G	NP_001317508.1:p.Ile801Val
XM_005266424.4:c.2557A>G	XP_005266481.1:p.Ile853Val
XM_005266430.4:c.2653A>G	XP_005266487.1:p.Ile885Val
XM_005266431.4:c.2617A>G	XP_005266488.1:p.Ile873Val
XM_006719837.3:c.2557A>G	XP_006719900.1:p.Ile853Val
XM_011535117.3:c.2557A>G	XP_011533419.1:p.Ile853Val
XM_017020627.1:c.2557A>G	XP_016876116.1:p.Ile853Val
NM_000053.4:c.2653A>G MANE Select	NP_000044.2:p.Ile885Val
NM_001005918.3:c.2167A>G	NP_001005918.1:p.Ile723Val
NM_001330579.2:c.2401A>G	NP_001317508.1:p.Ile801Val
NM_001243182.2:c.2320A>G	NP_001230111.1:p.Ile774Val
NM_001330578.2:c.2419A>G	NP_001317507.1:p.Ile807Val