Canonical Allele Identifier: CA388029939

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957509532
• gnomAD v3: 13-51944155-C-T
• gnomAD v4: 13-51944155-C-T
• MyVariant Identifiers: chr13:g.52518291C>T (hg19) ; chr13:g.51944155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944155C>T , CM000675.2:g.51944155C>T	GRCh38
NC_000013.10:g.52518291C>T , CM000675.1:g.52518291C>T	GRCh37
NC_000013.9:g.51416292C>T	NCBI36
NG_008806.1:g.72340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1601G>A	ENSP00000489512.2:n.*894-1601G>A
ENST00000673864.2:c.*1941G>A	ENSP00000501045.2:n.*1941G>A
ENST00000674147.2:c.2576G>A	ENSP00000500964.2:p.Ser859Asn
ENST00000242839.10:c.3197G>A MANE Select	ENSP00000242839.5:p.Ser1066Asn
ENST00000344297.9:c.2576G>A	ENSP00000342559.5:p.Ser859Asn
ENST00000400366.6:c.2864G>A	ENSP00000383217.3:p.Ser955Asn
ENST00000448424.7:c.2945G>A	ENSP00000416738.3:p.Ser982Asn
ENST00000673772.1:c.2963G>A	ENSP00000501168.1:p.Ser988Asn
ENST00000673867.1:n.3336G>A
ENST00000674126.1:n.3560G>A
ENST00000674147.1:c.2132G>A	ENSP00000500964.1:p.Ser711Asn
ENST00000242839.8:c.3197G>A	ENSP00000242839.4:p.Ser1066Asn
ENST00000344297.8:c.2576G>A	ENSP00000342559.5:p.Ser859Asn
ENST00000400366.5:c.2864G>A	ENSP00000383217.3:p.Ser955Asn
ENST00000400370.8:c.1907G>A	ENSP00000383221.3:p.Ser636Asn
ENST00000418097.7:c.3002G>A	ENSP00000393343.2:p.Ser1001Asn
ENST00000448424.6:c.2963G>A	ENSP00000416738.2:p.Ser988Asn
ENST00000466629.1:n.417G>A
ENST00000634296.1:c.1022-1601G>A
ENST00000634308.1:c.*298G>A	ENSP00000489234.1:n.*298G>A
ENST00000634620.1:n.3941G>A
ENST00000634810.1:n.2542G>A
ENST00000634844.1:c.3053G>A	ENSP00000489398.1:p.Ser1018Asn
NM_000053.3:c.3197G>A	NP_000044.2:p.Ser1066Asn
NM_001005918.2:c.2576G>A	NP_001005918.1:p.Ser859Asn
NM_001243182.1:c.2864G>A	NP_001230111.1:p.Ser955Asn
XM_005266423.2:c.3101G>A	XP_005266480.1:p.Ser1034Asn
XM_005266424.3:c.3101G>A	XP_005266481.1:p.Ser1034Asn
XM_005266427.2:c.2963G>A	XP_005266484.1:p.Ser988Asn
XM_005266428.1:c.2945G>A	XP_005266485.1:p.Ser982Asn
XM_005266430.3:c.3197G>A	XP_005266487.1:p.Ser1066Asn
XM_005266431.2:c.3161G>A	XP_005266488.1:p.Ser1054Asn
XM_005266432.2:c.2711G>A	XP_005266489.1:p.Ser904Asn
XM_006719837.2:c.3101G>A	XP_006719900.1:p.Ser1034Asn
XM_006719838.1:c.1013G>A	XP_006719901.1:p.Ser338Asn
XM_006719839.1:c.877-1601G>A	XP_006719902.1:n.877-1601G>A
XM_011535117.1:c.3101G>A	XP_011533419.1:p.Ser1034Asn
XM_011535118.1:c.3062G>A	XP_011533420.1:p.Ser1021Asn
XM_011535119.1:c.3061-1601G>A	XP_011533421.1:n.3061-1601G>A
XM_011535120.1:c.2783G>A	XP_011533422.1:p.Ser928Asn
XM_011535121.1:c.2731-1601G>A	XP_011533423.1:n.2731-1601G>A
XM_011535122.1:c.1865G>A	XP_011533424.1:p.Ser622Asn
XR_941601.1:n.3416G>A
XR_941602.1:n.3416G>A
XR_941603.1:n.3416G>A
XR_941604.1:n.3416G>A
NM_001330578.1:c.2963G>A	NP_001317507.1:p.Ser988Asn
NM_001330579.1:c.2945G>A	NP_001317508.1:p.Ser982Asn
XM_005266424.4:c.3101G>A	XP_005266481.1:p.Ser1034Asn
XM_005266430.4:c.3197G>A	XP_005266487.1:p.Ser1066Asn
XM_005266431.4:c.3161G>A	XP_005266488.1:p.Ser1054Asn
XM_006719837.3:c.3101G>A	XP_006719900.1:p.Ser1034Asn
XM_011535117.3:c.3101G>A	XP_011533419.1:p.Ser1034Asn
XM_017020627.1:c.3101G>A	XP_016876116.1:p.Ser1034Asn
NM_000053.4:c.3197G>A MANE Select	NP_000044.2:p.Ser1066Asn
NM_001005918.3:c.2576G>A	NP_001005918.1:p.Ser859Asn
NM_001330579.2:c.2945G>A	NP_001317508.1:p.Ser982Asn
NM_001243182.2:c.2864G>A	NP_001230111.1:p.Ser955Asn
NM_001330578.2:c.2963G>A	NP_001317507.1:p.Ser988Asn