Canonical Allele Identifier: CA388028574

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 633070
• ClinVar RCV Id: RCV000780932
• dbSNP Id: rs1566468882
• MyVariant Identifiers: chr13:g.52516636A>T (hg19) ; chr13:g.51942500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942500A>T , CM000675.2:g.51942500A>T	GRCh38
NC_000013.10:g.52516636A>T , CM000675.1:g.52516636A>T	GRCh37
NC_000013.9:g.51414637A>T	NCBI36
NG_008806.1:g.73995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*948T>A	ENSP00000489512.2:n.*948T>A
ENST00000673864.2:c.*2042T>A	ENSP00000501045.2:n.*2042T>A
ENST00000674147.2:c.2677T>A	ENSP00000500964.2:p.Cys893Ser
ENST00000242839.10:c.3298T>A MANE Select	ENSP00000242839.5:p.Cys1100Ser
ENST00000344297.9:c.2677T>A	ENSP00000342559.5:p.Cys893Ser
ENST00000400366.6:c.2965T>A	ENSP00000383217.3:p.Cys989Ser
ENST00000448424.7:c.3046T>A	ENSP00000416738.3:p.Cys1016Ser
ENST00000673772.1:c.3064T>A	ENSP00000501168.1:p.Cys1022Ser
ENST00000673867.1:n.3437T>A
ENST00000674126.1:n.3661T>A
ENST00000674147.1:c.2233T>A	ENSP00000500964.1:p.Cys745Ser
ENST00000242839.8:c.3298T>A	ENSP00000242839.4:p.Cys1100Ser
ENST00000344297.8:c.2677T>A	ENSP00000342559.5:p.Cys893Ser
ENST00000400366.5:c.2965T>A	ENSP00000383217.3:p.Cys989Ser
ENST00000400370.8:c.2008T>A	ENSP00000383221.3:p.Cys670Ser
ENST00000418097.7:c.3103T>A	ENSP00000393343.2:p.Cys1035Ser
ENST00000448424.6:c.3064T>A	ENSP00000416738.2:p.Cys1022Ser
ENST00000634296.1:c.1076T>A
ENST00000634308.1:c.*399T>A	ENSP00000489234.1:n.*399T>A
ENST00000634620.1:n.4042T>A
ENST00000634810.1:n.2643T>A
ENST00000634844.1:c.3154T>A	ENSP00000489398.1:p.Cys1052Ser
NM_000053.3:c.3298T>A	NP_000044.2:p.Cys1100Ser
NM_001005918.2:c.2677T>A	NP_001005918.1:p.Cys893Ser
NM_001243182.1:c.2965T>A	NP_001230111.1:p.Cys989Ser
XM_005266423.2:c.3202T>A	XP_005266480.1:p.Cys1068Ser
XM_005266424.3:c.3202T>A	XP_005266481.1:p.Cys1068Ser
XM_005266427.2:c.3064T>A	XP_005266484.1:p.Cys1022Ser
XM_005266428.1:c.3046T>A	XP_005266485.1:p.Cys1016Ser
XM_005266430.3:c.3298T>A	XP_005266487.1:p.Cys1100Ser
XM_005266431.2:c.3262T>A	XP_005266488.1:p.Cys1088Ser
XM_005266432.2:c.2812T>A	XP_005266489.1:p.Cys938Ser
XM_006719837.2:c.3202T>A	XP_006719900.1:p.Cys1068Ser
XM_006719838.1:c.1114T>A	XP_006719901.1:p.Cys372Ser
XM_006719839.1:c.931T>A	XP_006719902.1:p.Cys311Ser
XM_011535117.1:c.3202T>A	XP_011533419.1:p.Cys1068Ser
XM_011535118.1:c.3163T>A	XP_011533420.1:p.Cys1055Ser
XM_011535119.1:c.3115T>A	XP_011533421.1:p.Cys1039Ser
XM_011535120.1:c.2884T>A	XP_011533422.1:p.Cys962Ser
XM_011535121.1:c.2785T>A	XP_011533423.1:p.Cys929Ser
XM_011535122.1:c.1966T>A	XP_011533424.1:p.Cys656Ser
XR_941601.1:n.3517T>A
XR_941602.1:n.3517T>A
XR_941603.1:n.3517T>A
XR_941604.1:n.3517T>A
NM_001330578.1:c.3064T>A	NP_001317507.1:p.Cys1022Ser
NM_001330579.1:c.3046T>A	NP_001317508.1:p.Cys1016Ser
XM_005266424.4:c.3202T>A	XP_005266481.1:p.Cys1068Ser
XM_005266430.4:c.3298T>A	XP_005266487.1:p.Cys1100Ser
XM_005266431.4:c.3262T>A	XP_005266488.1:p.Cys1088Ser
XM_006719837.3:c.3202T>A	XP_006719900.1:p.Cys1068Ser
XM_011535117.3:c.3202T>A	XP_011533419.1:p.Cys1068Ser
XM_017020627.1:c.3202T>A	XP_016876116.1:p.Cys1068Ser
NM_000053.4:c.3298T>A MANE Select	NP_000044.2:p.Cys1100Ser
NM_001005918.3:c.2677T>A	NP_001005918.1:p.Cys893Ser
NM_001330579.2:c.3046T>A	NP_001317508.1:p.Cys1016Ser
NM_001243182.2:c.2965T>A	NP_001230111.1:p.Cys989Ser
NM_001330578.2:c.3064T>A	NP_001317507.1:p.Cys1022Ser