Canonical Allele Identifier: CA388021377

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2570866
• ClinVar RCV Id: RCV003312267
• MyVariant Identifiers: chr13:g.52511619A>G (hg19) ; chr13:g.51937483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937483A>G , CM000675.2:g.51937483A>G	GRCh38
NC_000013.10:g.52511619A>G , CM000675.1:g.52511619A>G	GRCh37
NC_000013.9:g.51409620A>G	NCBI36
NG_008806.1:g.79012T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1546T>C	ENSP00000489512.2:n.*1546T>C
ENST00000673864.2:c.*2640T>C	ENSP00000501045.2:n.*2640T>C
ENST00000674147.2:c.3275T>C	ENSP00000500964.2:p.Leu1092Pro
ENST00000242839.10:c.3896T>C MANE Select	ENSP00000242839.5:p.Leu1299Pro
ENST00000344297.9:c.3275T>C	ENSP00000342559.5:p.Leu1092Pro
ENST00000400366.6:c.3563T>C	ENSP00000383217.3:p.Leu1188Pro
ENST00000448424.7:c.3644T>C	ENSP00000416738.3:p.Leu1215Pro
ENST00000673696.1:n.1137T>C
ENST00000673772.1:c.3662T>C	ENSP00000501168.1:p.Leu1221Pro
ENST00000673867.1:n.4035T>C
ENST00000673923.1:n.762T>C
ENST00000674147.1:c.2831T>C	ENSP00000500964.1:p.Leu944Pro
ENST00000242839.8:c.3896T>C	ENSP00000242839.4:p.Leu1299Pro
ENST00000344297.8:c.3275T>C	ENSP00000342559.5:p.Leu1092Pro
ENST00000400366.5:c.3563T>C	ENSP00000383217.3:p.Leu1188Pro
ENST00000400370.8:c.2606T>C	ENSP00000383221.3:p.Leu869Pro
ENST00000418097.7:c.3701T>C	ENSP00000393343.2:p.Leu1234Pro
ENST00000448424.6:c.3662T>C	ENSP00000416738.2:p.Leu1221Pro
ENST00000634296.1:c.1674T>C
ENST00000634308.1:c.*997T>C	ENSP00000489234.1:n.*997T>C
ENST00000634620.1:n.4640T>C
ENST00000634810.1:n.3241T>C
ENST00000634844.1:c.3752T>C	ENSP00000489398.1:p.Leu1251Pro
NM_000053.3:c.3896T>C	NP_000044.2:p.Leu1299Pro
NM_001005918.2:c.3275T>C	NP_001005918.1:p.Leu1092Pro
NM_001243182.1:c.3563T>C	NP_001230111.1:p.Leu1188Pro
XM_005266423.2:c.3800T>C	XP_005266480.1:p.Leu1267Pro
XM_005266424.3:c.3800T>C	XP_005266481.1:p.Leu1267Pro
XM_005266427.2:c.3662T>C	XP_005266484.1:p.Leu1221Pro
XM_005266428.1:c.3644T>C	XP_005266485.1:p.Leu1215Pro
XM_005266430.3:c.3896T>C	XP_005266487.1:p.Leu1299Pro
XM_005266431.2:c.3860T>C	XP_005266488.1:p.Leu1287Pro
XM_005266432.2:c.3410T>C	XP_005266489.1:p.Leu1137Pro
XM_006719837.2:c.3800T>C	XP_006719900.1:p.Leu1267Pro
XM_006719838.1:c.1712T>C	XP_006719901.1:p.Leu571Pro
XM_006719839.1:c.1529T>C	XP_006719902.1:p.Leu510Pro
XM_011535117.1:c.3800T>C	XP_011533419.1:p.Leu1267Pro
XM_011535118.1:c.3761T>C	XP_011533420.1:p.Leu1254Pro
XM_011535119.1:c.3713T>C	XP_011533421.1:p.Leu1238Pro
XM_011535120.1:c.3482T>C	XP_011533422.1:p.Leu1161Pro
XM_011535121.1:c.3383T>C	XP_011533423.1:p.Leu1128Pro
XM_011535122.1:c.2564T>C	XP_011533424.1:p.Leu855Pro
XR_941601.1:n.4115T>C
XR_941602.1:n.4115T>C
XR_941603.1:n.4115T>C
XR_941604.1:n.4115T>C
NM_001330578.1:c.3662T>C	NP_001317507.1:p.Leu1221Pro
NM_001330579.1:c.3644T>C	NP_001317508.1:p.Leu1215Pro
XM_005266424.4:c.3800T>C	XP_005266481.1:p.Leu1267Pro
XM_005266430.4:c.3896T>C	XP_005266487.1:p.Leu1299Pro
XM_005266431.4:c.3860T>C	XP_005266488.1:p.Leu1287Pro
XM_006719837.3:c.3800T>C	XP_006719900.1:p.Leu1267Pro
XM_011535117.3:c.3800T>C	XP_011533419.1:p.Leu1267Pro
XM_017020627.1:c.3800T>C	XP_016876116.1:p.Leu1267Pro
NM_000053.4:c.3896T>C MANE Select	NP_000044.2:p.Leu1299Pro
NM_001005918.3:c.3275T>C	NP_001005918.1:p.Leu1092Pro
NM_001330579.2:c.3644T>C	NP_001317508.1:p.Leu1215Pro
NM_001243182.2:c.3563T>C	NP_001230111.1:p.Leu1188Pro
NM_001330578.2:c.3662T>C	NP_001317507.1:p.Leu1221Pro