Canonical Allele Identifier: CA388021152

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2736039
• ClinVar RCV Id: RCV003504571
• gnomAD v4: 13-51937359-A-G
• MyVariant Identifiers: chr13:g.52511495A>G (hg19) ; chr13:g.51937359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937359A>G , CM000675.2:g.51937359A>G	GRCh38
NC_000013.10:g.52511495A>G , CM000675.1:g.52511495A>G	GRCh37
NC_000013.9:g.51409496A>G	NCBI36
NG_008806.1:g.79136T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1588T>C	ENSP00000489512.2:n.*1588T>C
ENST00000673864.2:c.*2682T>C	ENSP00000501045.2:n.*2682T>C
ENST00000674147.2:c.3317T>C	ENSP00000500964.2:p.Leu1106Pro
ENST00000242839.10:c.3938T>C MANE Select	ENSP00000242839.5:p.Leu1313Pro
ENST00000344297.9:c.3317T>C	ENSP00000342559.5:p.Leu1106Pro
ENST00000400366.6:c.3605T>C	ENSP00000383217.3:p.Leu1202Pro
ENST00000448424.7:c.3686T>C	ENSP00000416738.3:p.Leu1229Pro
ENST00000673696.1:n.1261T>C
ENST00000673772.1:c.3704T>C	ENSP00000501168.1:p.Leu1235Pro
ENST00000673867.1:n.4077T>C
ENST00000673923.1:n.804T>C
ENST00000674147.1:c.2873T>C	ENSP00000500964.1:p.Leu958Pro
ENST00000242839.8:c.3938T>C	ENSP00000242839.4:p.Leu1313Pro
ENST00000344297.8:c.3317T>C	ENSP00000342559.5:p.Leu1106Pro
ENST00000400366.5:c.3605T>C	ENSP00000383217.3:p.Leu1202Pro
ENST00000400370.8:c.2648T>C	ENSP00000383221.3:p.Leu883Pro
ENST00000418097.7:c.3743T>C	ENSP00000393343.2:p.Leu1248Pro
ENST00000448424.6:c.3704T>C	ENSP00000416738.2:p.Leu1235Pro
ENST00000634296.1:c.1716T>C
ENST00000634308.1:c.*1039T>C	ENSP00000489234.1:n.*1039T>C
ENST00000634620.1:n.4682T>C
ENST00000634810.1:n.3283T>C
ENST00000634844.1:c.3794T>C	ENSP00000489398.1:p.Leu1265Pro
NM_000053.3:c.3938T>C	NP_000044.2:p.Leu1313Pro
NM_001005918.2:c.3317T>C	NP_001005918.1:p.Leu1106Pro
NM_001243182.1:c.3605T>C	NP_001230111.1:p.Leu1202Pro
XM_005266423.2:c.3842T>C	XP_005266480.1:p.Leu1281Pro
XM_005266424.3:c.3842T>C	XP_005266481.1:p.Leu1281Pro
XM_005266427.2:c.3704T>C	XP_005266484.1:p.Leu1235Pro
XM_005266428.1:c.3686T>C	XP_005266485.1:p.Leu1229Pro
XM_005266430.3:c.3938T>C	XP_005266487.1:p.Leu1313Pro
XM_005266431.2:c.3902T>C	XP_005266488.1:p.Leu1301Pro
XM_005266432.2:c.3452T>C	XP_005266489.1:p.Leu1151Pro
XM_006719837.2:c.3842T>C	XP_006719900.1:p.Leu1281Pro
XM_006719838.1:c.1754T>C	XP_006719901.1:p.Leu585Pro
XM_006719839.1:c.1571T>C	XP_006719902.1:p.Leu524Pro
XM_011535117.1:c.3842T>C	XP_011533419.1:p.Leu1281Pro
XM_011535118.1:c.3803T>C	XP_011533420.1:p.Leu1268Pro
XM_011535119.1:c.3755T>C	XP_011533421.1:p.Leu1252Pro
XM_011535120.1:c.3524T>C	XP_011533422.1:p.Leu1175Pro
XM_011535121.1:c.3425T>C	XP_011533423.1:p.Leu1142Pro
XM_011535122.1:c.2606T>C	XP_011533424.1:p.Leu869Pro
XR_941601.1:n.4157T>C
XR_941602.1:n.4157T>C
XR_941603.1:n.4157T>C
XR_941604.1:n.4157T>C
NM_001330578.1:c.3704T>C	NP_001317507.1:p.Leu1235Pro
NM_001330579.1:c.3686T>C	NP_001317508.1:p.Leu1229Pro
XM_005266424.4:c.3842T>C	XP_005266481.1:p.Leu1281Pro
XM_005266430.4:c.3938T>C	XP_005266487.1:p.Leu1313Pro
XM_005266431.4:c.3902T>C	XP_005266488.1:p.Leu1301Pro
XM_006719837.3:c.3842T>C	XP_006719900.1:p.Leu1281Pro
XM_011535117.3:c.3842T>C	XP_011533419.1:p.Leu1281Pro
XM_017020627.1:c.3842T>C	XP_016876116.1:p.Leu1281Pro
NM_000053.4:c.3938T>C MANE Select	NP_000044.2:p.Leu1313Pro
NM_001005918.3:c.3317T>C	NP_001005918.1:p.Leu1106Pro
NM_001330579.2:c.3686T>C	NP_001317508.1:p.Leu1229Pro
NM_001243182.2:c.3605T>C	NP_001230111.1:p.Leu1202Pro
NM_001330578.2:c.3704T>C	NP_001317507.1:p.Leu1235Pro