Canonical Allele Identifier: CA16043757

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 374482
• ClinVar RCV Id: RCV000416025 ; RCV002521469
• dbSNP Id: rs1057519121
• gnomAD v3: 13-51941087-T-C
• gnomAD v4: 13-51941087-T-C
• MyVariant Identifiers: chr13:g.52515223T>C (hg19) ; chr13:g.51941087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941087T>C , CM000675.2:g.51941087T>C	GRCh38
NC_000013.10:g.52515223T>C , CM000675.1:g.52515223T>C	GRCh37
NC_000013.9:g.51413224T>C	NCBI36
NG_008806.1:g.75408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1200A>G	ENSP00000489512.2:n.*1200A>G
ENST00000673864.2:c.*2294A>G	ENSP00000501045.2:n.*2294A>G
ENST00000674147.2:c.2929A>G	ENSP00000500964.2:p.Ile977Val
ENST00000242839.10:c.3550A>G MANE Select	ENSP00000242839.5:p.Ile1184Val
ENST00000344297.9:c.2929A>G	ENSP00000342559.5:p.Ile977Val
ENST00000400366.6:c.3217A>G	ENSP00000383217.3:p.Ile1073Val
ENST00000448424.7:c.3298A>G	ENSP00000416738.3:p.Ile1100Val
ENST00000673772.1:c.3316A>G	ENSP00000501168.1:p.Ile1106Val
ENST00000673867.1:n.3689A>G
ENST00000674126.1:n.3913A>G
ENST00000674147.1:c.2485A>G	ENSP00000500964.1:p.Ile829Val
ENST00000242839.8:c.3550A>G	ENSP00000242839.4:p.Ile1184Val
ENST00000344297.8:c.2929A>G	ENSP00000342559.5:p.Ile977Val
ENST00000400366.5:c.3217A>G	ENSP00000383217.3:p.Ile1073Val
ENST00000400370.8:c.2260A>G	ENSP00000383221.3:p.Ile754Val
ENST00000418097.7:c.3355A>G	ENSP00000393343.2:p.Ile1119Val
ENST00000448424.6:c.3316A>G	ENSP00000416738.2:p.Ile1106Val
ENST00000634296.1:c.1328A>G
ENST00000634308.1:c.*651A>G	ENSP00000489234.1:n.*651A>G
ENST00000634620.1:n.4294A>G
ENST00000634810.1:n.2895A>G
ENST00000634844.1:c.3406A>G	ENSP00000489398.1:p.Ile1136Val
NM_000053.3:c.3550A>G	NP_000044.2:p.Ile1184Val
NM_001005918.2:c.2929A>G	NP_001005918.1:p.Ile977Val
NM_001243182.1:c.3217A>G	NP_001230111.1:p.Ile1073Val
XM_005266423.2:c.3454A>G	XP_005266480.1:p.Ile1152Val
XM_005266424.3:c.3454A>G	XP_005266481.1:p.Ile1152Val
XM_005266427.2:c.3316A>G	XP_005266484.1:p.Ile1106Val
XM_005266428.1:c.3298A>G	XP_005266485.1:p.Ile1100Val
XM_005266430.3:c.3550A>G	XP_005266487.1:p.Ile1184Val
XM_005266431.2:c.3514A>G	XP_005266488.1:p.Ile1172Val
XM_005266432.2:c.3064A>G	XP_005266489.1:p.Ile1022Val
XM_006719837.2:c.3454A>G	XP_006719900.1:p.Ile1152Val
XM_006719838.1:c.1366A>G	XP_006719901.1:p.Ile456Val
XM_006719839.1:c.1183A>G	XP_006719902.1:p.Ile395Val
XM_011535117.1:c.3454A>G	XP_011533419.1:p.Ile1152Val
XM_011535118.1:c.3415A>G	XP_011533420.1:p.Ile1139Val
XM_011535119.1:c.3367A>G	XP_011533421.1:p.Ile1123Val
XM_011535120.1:c.3136A>G	XP_011533422.1:p.Ile1046Val
XM_011535121.1:c.3037A>G	XP_011533423.1:p.Ile1013Val
XM_011535122.1:c.2218A>G	XP_011533424.1:p.Ile740Val
XR_941601.1:n.3769A>G
XR_941602.1:n.3769A>G
XR_941603.1:n.3769A>G
XR_941604.1:n.3769A>G
NM_001330578.1:c.3316A>G	NP_001317507.1:p.Ile1106Val
NM_001330579.1:c.3298A>G	NP_001317508.1:p.Ile1100Val
XM_005266424.4:c.3454A>G	XP_005266481.1:p.Ile1152Val
XM_005266430.4:c.3550A>G	XP_005266487.1:p.Ile1184Val
XM_005266431.4:c.3514A>G	XP_005266488.1:p.Ile1172Val
XM_006719837.3:c.3454A>G	XP_006719900.1:p.Ile1152Val
XM_011535117.3:c.3454A>G	XP_011533419.1:p.Ile1152Val
XM_017020627.1:c.3454A>G	XP_016876116.1:p.Ile1152Val
NM_000053.4:c.3550A>G MANE Select	NP_000044.2:p.Ile1184Val
NM_001005918.3:c.2929A>G	NP_001005918.1:p.Ile977Val
NM_001330579.2:c.3298A>G	NP_001317508.1:p.Ile1100Val
NM_001243182.2:c.3217A>G	NP_001230111.1:p.Ile1073Val
NM_001330578.2:c.3316A>G	NP_001317507.1:p.Ile1106Val