Canonical Allele Identifier: CA16606473

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 377538
• ClinVar RCV Id: RCV000430661 ; RCV000667536
• dbSNP Id: rs1057520235
• gnomAD v4: 13-51950277-A-G
• MyVariant Identifiers: chr13:g.52524413A>G (hg19) ; chr13:g.51950277A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950277A>G , CM000675.2:g.51950277A>G	GRCh38
NC_000013.10:g.52524413A>G , CM000675.1:g.52524413A>G	GRCh37
NC_000013.9:g.51422414A>G	NCBI36
NG_008806.1:g.66218T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*403T>C	ENSP00000489512.2:n.*403T>C
ENST00000673864.2:c.*1314T>C	ENSP00000501045.2:n.*1314T>C
ENST00000674147.2:c.2084T>C	ENSP00000500964.2:p.Ile695Thr
ENST00000242839.10:c.2570T>C MANE Select	ENSP00000242839.5:p.Ile857Thr
ENST00000344297.9:c.2084T>C	ENSP00000342559.5:p.Ile695Thr
ENST00000400366.6:c.2237T>C	ENSP00000383217.3:p.Ile746Thr
ENST00000448424.7:c.2318T>C	ENSP00000416738.3:p.Ile773Thr
ENST00000673772.1:c.2336T>C	ENSP00000501168.1:p.Ile779Thr
ENST00000674147.1:c.1640T>C	ENSP00000500964.1:p.Ile547Thr
ENST00000242839.8:c.2570T>C	ENSP00000242839.4:p.Ile857Thr
ENST00000344297.8:c.2084T>C	ENSP00000342559.5:p.Ile695Thr
ENST00000400366.5:c.2237T>C	ENSP00000383217.3:p.Ile746Thr
ENST00000400370.8:c.1286-116T>C	ENSP00000383221.3:n.1286-116T>C
ENST00000418097.7:c.2570T>C	ENSP00000393343.2:p.Ile857Thr
ENST00000448424.6:c.2336T>C	ENSP00000416738.2:p.Ile779Thr
ENST00000634296.1:c.531T>C
ENST00000634308.1:c.2336T>C	ENSP00000489234.1:p.Ile779Thr
ENST00000634620.1:n.3368T>C
ENST00000634810.1:n.1915T>C
ENST00000634844.1:c.2426T>C	ENSP00000489398.1:p.Ile809Thr
ENST00000635406.1:n.212-3799T>C
NM_000053.3:c.2570T>C	NP_000044.2:p.Ile857Thr
NM_001005918.2:c.2084T>C	NP_001005918.1:p.Ile695Thr
NM_001243182.1:c.2237T>C	NP_001230111.1:p.Ile746Thr
XM_005266423.2:c.2474T>C	XP_005266480.1:p.Ile825Thr
XM_005266424.3:c.2474T>C	XP_005266481.1:p.Ile825Thr
XM_005266427.2:c.2336T>C	XP_005266484.1:p.Ile779Thr
XM_005266428.1:c.2318T>C	XP_005266485.1:p.Ile773Thr
XM_005266430.3:c.2570T>C	XP_005266487.1:p.Ile857Thr
XM_005266431.2:c.2534T>C	XP_005266488.1:p.Ile845Thr
XM_005266432.2:c.2084T>C	XP_005266489.1:p.Ile695Thr
XM_006719837.2:c.2474T>C	XP_006719900.1:p.Ile825Thr
XM_006719838.1:c.386T>C	XP_006719901.1:p.Ile129Thr
XM_006719839.1:c.386T>C	XP_006719902.1:p.Ile129Thr
XM_011535117.1:c.2474T>C	XP_011533419.1:p.Ile825Thr
XM_011535118.1:c.2570T>C	XP_011533420.1:p.Ile857Thr
XM_011535119.1:c.2570T>C	XP_011533421.1:p.Ile857Thr
XM_011535120.1:c.2156T>C	XP_011533422.1:p.Ile719Thr
XM_011535121.1:c.2570T>C	XP_011533423.1:p.Ile857Thr
XM_011535122.1:c.1238T>C	XP_011533424.1:p.Ile413Thr
XR_941601.1:n.2789T>C
XR_941602.1:n.2789T>C
XR_941603.1:n.2789T>C
XR_941604.1:n.2789T>C
NM_001330578.1:c.2336T>C	NP_001317507.1:p.Ile779Thr
NM_001330579.1:c.2318T>C	NP_001317508.1:p.Ile773Thr
XM_005266424.4:c.2474T>C	XP_005266481.1:p.Ile825Thr
XM_005266430.4:c.2570T>C	XP_005266487.1:p.Ile857Thr
XM_005266431.4:c.2534T>C	XP_005266488.1:p.Ile845Thr
XM_006719837.3:c.2474T>C	XP_006719900.1:p.Ile825Thr
XM_011535117.3:c.2474T>C	XP_011533419.1:p.Ile825Thr
XM_017020627.1:c.2474T>C	XP_016876116.1:p.Ile825Thr
NM_000053.4:c.2570T>C MANE Select	NP_000044.2:p.Ile857Thr
NM_001005918.3:c.2084T>C	NP_001005918.1:p.Ile695Thr
NM_001330579.2:c.2318T>C	NP_001317508.1:p.Ile773Thr
NM_001243182.2:c.2237T>C	NP_001230111.1:p.Ile746Thr
NM_001330578.2:c.2336T>C	NP_001317507.1:p.Ile779Thr