Canonical Allele Identifier: CA388030533

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2419042
• ClinVar RCV Id: RCV003112286
• MyVariant Identifiers: chr13:g.52518399C>A (hg19) ; chr13:g.51944263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944263C>A , CM000675.2:g.51944263C>A	GRCh38
NC_000013.10:g.52518399C>A , CM000675.1:g.52518399C>A	GRCh37
NC_000013.9:g.51416400C>A	NCBI36
NG_008806.1:g.72232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1709G>T	ENSP00000489512.2:n.*894-1709G>T
ENST00000673864.2:c.*1833G>T	ENSP00000501045.2:n.*1833G>T
ENST00000674147.2:c.2468G>T	ENSP00000500964.2:p.Gly823Val
ENST00000242839.10:c.3089G>T MANE Select	ENSP00000242839.5:p.Gly1030Val
ENST00000344297.9:c.2468G>T	ENSP00000342559.5:p.Gly823Val
ENST00000400366.6:c.2756G>T	ENSP00000383217.3:p.Gly919Val
ENST00000448424.7:c.2837G>T	ENSP00000416738.3:p.Gly946Val
ENST00000673772.1:c.2855G>T	ENSP00000501168.1:p.Gly952Val
ENST00000673867.1:n.3228G>T
ENST00000674126.1:n.3452G>T
ENST00000674147.1:c.2024G>T	ENSP00000500964.1:p.Gly675Val
ENST00000242839.8:c.3089G>T	ENSP00000242839.4:p.Gly1030Val
ENST00000344297.8:c.2468G>T	ENSP00000342559.5:p.Gly823Val
ENST00000400366.5:c.2756G>T	ENSP00000383217.3:p.Gly919Val
ENST00000400370.8:c.1799G>T	ENSP00000383221.3:p.Gly600Val
ENST00000418097.7:c.2894G>T	ENSP00000393343.2:p.Gly965Val
ENST00000448424.6:c.2855G>T	ENSP00000416738.2:p.Gly952Val
ENST00000466629.1:n.309G>T
ENST00000634296.1:c.1022-1709G>T
ENST00000634308.1:c.*190G>T	ENSP00000489234.1:n.*190G>T
ENST00000634620.1:n.3833G>T
ENST00000634810.1:n.2434G>T
ENST00000634844.1:c.2945G>T	ENSP00000489398.1:p.Gly982Val
ENST00000635406.1:n.435G>T
NM_000053.3:c.3089G>T	NP_000044.2:p.Gly1030Val
NM_001005918.2:c.2468G>T	NP_001005918.1:p.Gly823Val
NM_001243182.1:c.2756G>T	NP_001230111.1:p.Gly919Val
XM_005266423.2:c.2993G>T	XP_005266480.1:p.Gly998Val
XM_005266424.3:c.2993G>T	XP_005266481.1:p.Gly998Val
XM_005266427.2:c.2855G>T	XP_005266484.1:p.Gly952Val
XM_005266428.1:c.2837G>T	XP_005266485.1:p.Gly946Val
XM_005266430.3:c.3089G>T	XP_005266487.1:p.Gly1030Val
XM_005266431.2:c.3053G>T	XP_005266488.1:p.Gly1018Val
XM_005266432.2:c.2603G>T	XP_005266489.1:p.Gly868Val
XM_006719837.2:c.2993G>T	XP_006719900.1:p.Gly998Val
XM_006719838.1:c.905G>T	XP_006719901.1:p.Gly302Val
XM_006719839.1:c.877-1709G>T	XP_006719902.1:n.877-1709G>T
XM_011535117.1:c.2993G>T	XP_011533419.1:p.Gly998Val
XM_011535118.1:c.2954G>T	XP_011533420.1:p.Gly985Val
XM_011535119.1:c.3061-1709G>T	XP_011533421.1:n.3061-1709G>T
XM_011535120.1:c.2675G>T	XP_011533422.1:p.Gly892Val
XM_011535121.1:c.2731-1709G>T	XP_011533423.1:n.2731-1709G>T
XM_011535122.1:c.1757G>T	XP_011533424.1:p.Gly586Val
XR_941601.1:n.3308G>T
XR_941602.1:n.3308G>T
XR_941603.1:n.3308G>T
XR_941604.1:n.3308G>T
NM_001330578.1:c.2855G>T	NP_001317507.1:p.Gly952Val
NM_001330579.1:c.2837G>T	NP_001317508.1:p.Gly946Val
XM_005266424.4:c.2993G>T	XP_005266481.1:p.Gly998Val
XM_005266430.4:c.3089G>T	XP_005266487.1:p.Gly1030Val
XM_005266431.4:c.3053G>T	XP_005266488.1:p.Gly1018Val
XM_006719837.3:c.2993G>T	XP_006719900.1:p.Gly998Val
XM_011535117.3:c.2993G>T	XP_011533419.1:p.Gly998Val
XM_017020627.1:c.2993G>T	XP_016876116.1:p.Gly998Val
NM_000053.4:c.3089G>T MANE Select	NP_000044.2:p.Gly1030Val
NM_001005918.3:c.2468G>T	NP_001005918.1:p.Gly823Val
NM_001330579.2:c.2837G>T	NP_001317508.1:p.Gly946Val
NM_001243182.2:c.2756G>T	NP_001230111.1:p.Gly919Val
NM_001330578.2:c.2855G>T	NP_001317507.1:p.Gly952Val