Canonical Allele Identifier: CA6988779

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 456555
• ClinVar RCV Id: RCV003159739
• dbSNP Id: rs748003525
• ExAC: 13:52518277 A / G
• gnomAD v2: 13-52518277-A-G
• gnomAD v3: 13-51944141-A-G
• gnomAD v4: 13-51944141-A-G
• MyVariant Identifiers: chr13:g.52518277A>G (hg19) ; chr13:g.51944141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944141A>G , CM000675.2:g.51944141A>G	GRCh38
NC_000013.10:g.52518277A>G , CM000675.1:g.52518277A>G	GRCh37
NC_000013.9:g.51416278A>G	NCBI36
NG_008806.1:g.72354T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1587T>C	ENSP00000489512.2:n.*894-1587T>C
ENST00000673864.2:c.*1955T>C	ENSP00000501045.2:n.*1955T>C
ENST00000674147.2:c.2590T>C	ENSP00000500964.2:p.Leu864=
ENST00000242839.10:c.3211T>C MANE Select	ENSP00000242839.5:p.Leu1071=
ENST00000344297.9:c.2590T>C	ENSP00000342559.5:p.Leu864=
ENST00000400366.6:c.2878T>C	ENSP00000383217.3:p.Leu960=
ENST00000448424.7:c.2959T>C	ENSP00000416738.3:p.Leu987=
ENST00000673772.1:c.2977T>C	ENSP00000501168.1:p.Leu993=
ENST00000673867.1:n.3350T>C
ENST00000674126.1:n.3574T>C
ENST00000674147.1:c.2146T>C	ENSP00000500964.1:p.Leu716=
ENST00000242839.8:c.3211T>C	ENSP00000242839.4:p.Leu1071=
ENST00000344297.8:c.2590T>C	ENSP00000342559.5:p.Leu864=
ENST00000400366.5:c.2878T>C	ENSP00000383217.3:p.Leu960=
ENST00000400370.8:c.1921T>C	ENSP00000383221.3:p.Leu641=
ENST00000418097.7:c.3016T>C	ENSP00000393343.2:p.Leu1006=
ENST00000448424.6:c.2977T>C	ENSP00000416738.2:p.Leu993=
ENST00000466629.1:n.431T>C
ENST00000634296.1:c.1022-1587T>C
ENST00000634308.1:c.*312T>C	ENSP00000489234.1:n.*312T>C
ENST00000634620.1:n.3955T>C
ENST00000634810.1:n.2556T>C
ENST00000634844.1:c.3067T>C	ENSP00000489398.1:p.Leu1023=
NM_000053.3:c.3211T>C	NP_000044.2:p.Leu1071=
NM_001005918.2:c.2590T>C	NP_001005918.1:p.Leu864=
NM_001243182.1:c.2878T>C	NP_001230111.1:p.Leu960=
XM_005266423.2:c.3115T>C	XP_005266480.1:p.Leu1039=
XM_005266424.3:c.3115T>C	XP_005266481.1:p.Leu1039=
XM_005266427.2:c.2977T>C	XP_005266484.1:p.Leu993=
XM_005266428.1:c.2959T>C	XP_005266485.1:p.Leu987=
XM_005266430.3:c.3211T>C	XP_005266487.1:p.Leu1071=
XM_005266431.2:c.3175T>C	XP_005266488.1:p.Leu1059=
XM_005266432.2:c.2725T>C	XP_005266489.1:p.Leu909=
XM_006719837.2:c.3115T>C	XP_006719900.1:p.Leu1039=
XM_006719838.1:c.1027T>C	XP_006719901.1:p.Leu343=
XM_006719839.1:c.877-1587T>C	XP_006719902.1:n.877-1587T>C
XM_011535117.1:c.3115T>C	XP_011533419.1:p.Leu1039=
XM_011535118.1:c.3076T>C	XP_011533420.1:p.Leu1026=
XM_011535119.1:c.3061-1587T>C	XP_011533421.1:n.3061-1587T>C
XM_011535120.1:c.2797T>C	XP_011533422.1:p.Leu933=
XM_011535121.1:c.2731-1587T>C	XP_011533423.1:n.2731-1587T>C
XM_011535122.1:c.1879T>C	XP_011533424.1:p.Leu627=
XR_941601.1:n.3430T>C
XR_941602.1:n.3430T>C
XR_941603.1:n.3430T>C
XR_941604.1:n.3430T>C
NM_001330578.1:c.2977T>C	NP_001317507.1:p.Leu993=
NM_001330579.1:c.2959T>C	NP_001317508.1:p.Leu987=
XM_005266424.4:c.3115T>C	XP_005266481.1:p.Leu1039=
XM_005266430.4:c.3211T>C	XP_005266487.1:p.Leu1071=
XM_005266431.4:c.3175T>C	XP_005266488.1:p.Leu1059=
XM_006719837.3:c.3115T>C	XP_006719900.1:p.Leu1039=
XM_011535117.3:c.3115T>C	XP_011533419.1:p.Leu1039=
XM_017020627.1:c.3115T>C	XP_016876116.1:p.Leu1039=
NM_000053.4:c.3211T>C MANE Select	NP_000044.2:p.Leu1071=
NM_001005918.3:c.2590T>C	NP_001005918.1:p.Leu864=
NM_001330579.2:c.2959T>C	NP_001317508.1:p.Leu987=
NM_001243182.2:c.2878T>C	NP_001230111.1:p.Leu960=
NM_001330578.2:c.2977T>C	NP_001317507.1:p.Leu993=