Canonical Allele Identifier: CA388020478

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 664367
• ClinVar RCV Id: RCV000822452
• dbSNP Id: rs1593725352
• MyVariant Identifiers: chr13:g.52532464G>C (hg19) ; chr13:g.51958328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958328G>C , CM000675.2:g.51958328G>C	GRCh38
NC_000013.10:g.52532464G>C , CM000675.1:g.52532464G>C	GRCh37
NC_000013.9:g.51430465G>C	NCBI36
NG_008806.1:g.58167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*171C>G	ENSP00000489512.2:n.*171C>G
ENST00000673864.2:c.*1082C>G	ENSP00000501045.2:n.*1082C>G
ENST00000674147.2:c.1870-721C>G	ENSP00000500964.2:n.1870-721C>G
ENST00000242839.10:c.2338C>G MANE Select	ENSP00000242839.5:p.Leu780Val
ENST00000344297.9:c.1870-721C>G	ENSP00000342559.5:n.1870-721C>G
ENST00000400366.6:c.2005C>G	ENSP00000383217.3:p.Leu669Val
ENST00000448424.7:c.2086C>G	ENSP00000416738.3:p.Leu696Val
ENST00000673772.1:c.2122-721C>G	ENSP00000501168.1:n.2122-721C>G
ENST00000674147.1:c.1426-721C>G	ENSP00000500964.1:n.1426-721C>G
ENST00000242839.8:c.2338C>G	ENSP00000242839.4:p.Leu780Val
ENST00000344297.8:c.1870-721C>G	ENSP00000342559.5:n.1870-721C>G
ENST00000400366.5:c.2005C>G	ENSP00000383217.3:p.Leu669Val
ENST00000400370.8:c.1286-8167C>G	ENSP00000383221.3:n.1286-8167C>G
ENST00000418097.7:c.2338C>G	ENSP00000393343.2:p.Leu780Val
ENST00000448424.6:c.2122-721C>G	ENSP00000416738.2:n.2122-721C>G
ENST00000634296.1:c.299C>G
ENST00000634308.1:c.2122-721C>G	ENSP00000489234.1:n.2122-721C>G
ENST00000634620.1:n.2433C>G
ENST00000634810.1:n.1683C>G
ENST00000634844.1:c.2194C>G	ENSP00000489398.1:p.Leu732Val
ENST00000635406.1:n.212-11850C>G
NM_000053.3:c.2338C>G	NP_000044.2:p.Leu780Val
NM_001005918.2:c.1870-721C>G	NP_001005918.1:n.1870-721C>G
NM_001243182.1:c.2005C>G	NP_001230111.1:p.Leu669Val
XM_005266423.2:c.2242C>G	XP_005266480.1:p.Leu748Val
XM_005266424.3:c.2242C>G	XP_005266481.1:p.Leu748Val
XM_005266427.2:c.2122-721C>G	XP_005266484.1:n.2122-721C>G
XM_005266428.1:c.2086C>G	XP_005266485.1:p.Leu696Val
XM_005266430.3:c.2338C>G	XP_005266487.1:p.Leu780Val
XM_005266431.2:c.2302C>G	XP_005266488.1:p.Leu768Val
XM_005266432.2:c.1870-721C>G	XP_005266489.1:n.1870-721C>G
XM_006719837.2:c.2242C>G	XP_006719900.1:p.Leu748Val
XM_006719838.1:c.154C>G	XP_006719901.1:p.Leu52Val
XM_006719839.1:c.154C>G	XP_006719902.1:p.Leu52Val
XM_011535117.1:c.2242C>G	XP_011533419.1:p.Leu748Val
XM_011535118.1:c.2338C>G	XP_011533420.1:p.Leu780Val
XM_011535119.1:c.2338C>G	XP_011533421.1:p.Leu780Val
XM_011535120.1:c.1924C>G	XP_011533422.1:p.Leu642Val
XM_011535121.1:c.2338C>G	XP_011533423.1:p.Leu780Val
XM_011535122.1:c.1006C>G	XP_011533424.1:p.Leu336Val
XR_941601.1:n.2557C>G
XR_941602.1:n.2557C>G
XR_941603.1:n.2557C>G
XR_941604.1:n.2557C>G
NM_001330578.1:c.2122-721C>G	NP_001317507.1:n.2122-721C>G
NM_001330579.1:c.2086C>G	NP_001317508.1:p.Leu696Val
XM_005266424.4:c.2242C>G	XP_005266481.1:p.Leu748Val
XM_005266430.4:c.2338C>G	XP_005266487.1:p.Leu780Val
XM_005266431.4:c.2302C>G	XP_005266488.1:p.Leu768Val
XM_006719837.3:c.2242C>G	XP_006719900.1:p.Leu748Val
XM_011535117.3:c.2242C>G	XP_011533419.1:p.Leu748Val
XM_017020627.1:c.2242C>G	XP_016876116.1:p.Leu748Val
NM_000053.4:c.2338C>G MANE Select	NP_000044.2:p.Leu780Val
NM_001005918.3:c.1870-721C>G	NP_001005918.1:n.1870-721C>G
NM_001330579.2:c.2086C>G	NP_001317508.1:p.Leu696Val
NM_001243182.2:c.2005C>G	NP_001230111.1:p.Leu669Val
NM_001330578.2:c.2122-721C>G	NP_001317507.1:n.2122-721C>G