Canonical Allele Identifier: CA6988684

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2415623
• ClinVar RCV Id: RCV003104835
• dbSNP Id: rs754759064
• ExAC: 13:52515339 G / C
• gnomAD v2: 13-52515339-G-C
• gnomAD v3: 13-51941203-G-C
• gnomAD v4: 13-51941203-G-C
• MyVariant Identifiers: chr13:g.52515339G>C (hg19) ; chr13:g.51941203G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941203G>C , CM000675.2:g.51941203G>C	GRCh38
NC_000013.10:g.52515339G>C , CM000675.1:g.52515339G>C	GRCh37
NC_000013.9:g.51413340G>C	NCBI36
NG_008806.1:g.75292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1084C>G	ENSP00000489512.2:n.*1084C>G
ENST00000673864.2:c.*2178C>G	ENSP00000501045.2:n.*2178C>G
ENST00000674147.2:c.2813C>G	ENSP00000500964.2:p.Ser938Cys
ENST00000242839.10:c.3434C>G MANE Select	ENSP00000242839.5:p.Ser1145Cys
ENST00000344297.9:c.2813C>G	ENSP00000342559.5:p.Ser938Cys
ENST00000400366.6:c.3101C>G	ENSP00000383217.3:p.Ser1034Cys
ENST00000448424.7:c.3182C>G	ENSP00000416738.3:p.Ser1061Cys
ENST00000673772.1:c.3200C>G	ENSP00000501168.1:p.Ser1067Cys
ENST00000673867.1:n.3573C>G
ENST00000674126.1:n.3797C>G
ENST00000674147.1:c.2369C>G	ENSP00000500964.1:p.Ser790Cys
ENST00000242839.8:c.3434C>G	ENSP00000242839.4:p.Ser1145Cys
ENST00000344297.8:c.2813C>G	ENSP00000342559.5:p.Ser938Cys
ENST00000400366.5:c.3101C>G	ENSP00000383217.3:p.Ser1034Cys
ENST00000400370.8:c.2144C>G	ENSP00000383221.3:p.Ser715Cys
ENST00000418097.7:c.3239C>G	ENSP00000393343.2:p.Ser1080Cys
ENST00000448424.6:c.3200C>G	ENSP00000416738.2:p.Ser1067Cys
ENST00000634296.1:c.1212C>G
ENST00000634308.1:c.*535C>G	ENSP00000489234.1:n.*535C>G
ENST00000634620.1:n.4178C>G
ENST00000634810.1:n.2779C>G
ENST00000634844.1:c.3290C>G	ENSP00000489398.1:p.Ser1097Cys
NM_000053.3:c.3434C>G	NP_000044.2:p.Ser1145Cys
NM_001005918.2:c.2813C>G	NP_001005918.1:p.Ser938Cys
NM_001243182.1:c.3101C>G	NP_001230111.1:p.Ser1034Cys
XM_005266423.2:c.3338C>G	XP_005266480.1:p.Ser1113Cys
XM_005266424.3:c.3338C>G	XP_005266481.1:p.Ser1113Cys
XM_005266427.2:c.3200C>G	XP_005266484.1:p.Ser1067Cys
XM_005266428.1:c.3182C>G	XP_005266485.1:p.Ser1061Cys
XM_005266430.3:c.3434C>G	XP_005266487.1:p.Ser1145Cys
XM_005266431.2:c.3398C>G	XP_005266488.1:p.Ser1133Cys
XM_005266432.2:c.2948C>G	XP_005266489.1:p.Ser983Cys
XM_006719837.2:c.3338C>G	XP_006719900.1:p.Ser1113Cys
XM_006719838.1:c.1250C>G	XP_006719901.1:p.Ser417Cys
XM_006719839.1:c.1067C>G	XP_006719902.1:p.Ser356Cys
XM_011535117.1:c.3338C>G	XP_011533419.1:p.Ser1113Cys
XM_011535118.1:c.3299C>G	XP_011533420.1:p.Ser1100Cys
XM_011535119.1:c.3251C>G	XP_011533421.1:p.Ser1084Cys
XM_011535120.1:c.3020C>G	XP_011533422.1:p.Ser1007Cys
XM_011535121.1:c.2921C>G	XP_011533423.1:p.Ser974Cys
XM_011535122.1:c.2102C>G	XP_011533424.1:p.Ser701Cys
XR_941601.1:n.3653C>G
XR_941602.1:n.3653C>G
XR_941603.1:n.3653C>G
XR_941604.1:n.3653C>G
NM_001330578.1:c.3200C>G	NP_001317507.1:p.Ser1067Cys
NM_001330579.1:c.3182C>G	NP_001317508.1:p.Ser1061Cys
XM_005266424.4:c.3338C>G	XP_005266481.1:p.Ser1113Cys
XM_005266430.4:c.3434C>G	XP_005266487.1:p.Ser1145Cys
XM_005266431.4:c.3398C>G	XP_005266488.1:p.Ser1133Cys
XM_006719837.3:c.3338C>G	XP_006719900.1:p.Ser1113Cys
XM_011535117.3:c.3338C>G	XP_011533419.1:p.Ser1113Cys
XM_017020627.1:c.3338C>G	XP_016876116.1:p.Ser1113Cys
NM_000053.4:c.3434C>G MANE Select	NP_000044.2:p.Ser1145Cys
NM_001005918.3:c.2813C>G	NP_001005918.1:p.Ser938Cys
NM_001330579.2:c.3182C>G	NP_001317508.1:p.Ser1061Cys
NM_001243182.2:c.3101C>G	NP_001230111.1:p.Ser1034Cys
NM_001330578.2:c.3200C>G	NP_001317507.1:p.Ser1067Cys