Canonical Allele Identifier: CA388032273

Gene: ATP7B

Linked Data

• dbSNP Id: rs1256352645
• gnomAD v2: 13-52520521-G-C
• gnomAD v4: 13-51946385-G-C
• MyVariant Identifiers: chr13:g.52520521G>C (hg19) ; chr13:g.51946385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946385G>C , CM000675.2:g.51946385G>C	GRCh38
NC_000013.10:g.52520521G>C , CM000675.1:g.52520521G>C	GRCh37
NC_000013.9:g.51418522G>C	NCBI36
NG_008806.1:g.70110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*792C>G	ENSP00000489512.2:n.*792C>G
ENST00000673864.2:c.*1703C>G	ENSP00000501045.2:n.*1703C>G
ENST00000674147.2:c.2338C>G	ENSP00000500964.2:p.Leu780Val
ENST00000242839.10:c.2959C>G MANE Select	ENSP00000242839.5:p.Leu987Val
ENST00000344297.9:c.2338C>G	ENSP00000342559.5:p.Leu780Val
ENST00000400366.6:c.2626C>G	ENSP00000383217.3:p.Leu876Val
ENST00000448424.7:c.2707C>G	ENSP00000416738.3:p.Leu903Val
ENST00000673772.1:c.2725C>G	ENSP00000501168.1:p.Leu909Val
ENST00000673867.1:n.1106C>G
ENST00000674126.1:n.3322C>G
ENST00000674147.1:c.1894C>G	ENSP00000500964.1:p.Leu632Val
ENST00000242839.8:c.2959C>G	ENSP00000242839.4:p.Leu987Val
ENST00000344297.8:c.2338C>G	ENSP00000342559.5:p.Leu780Val
ENST00000400366.5:c.2626C>G	ENSP00000383217.3:p.Leu876Val
ENST00000400370.8:c.1669C>G	ENSP00000383221.3:p.Leu557Val
ENST00000418097.7:c.2866-2094C>G	ENSP00000393343.2:n.2866-2094C>G
ENST00000448424.6:c.2725C>G	ENSP00000416738.2:p.Leu909Val
ENST00000466629.1:n.179C>G
ENST00000634296.1:c.920C>G
ENST00000634308.1:c.*60C>G	ENSP00000489234.1:n.*60C>G
ENST00000634620.1:n.3703C>G
ENST00000634810.1:n.2304C>G
ENST00000634844.1:c.2815C>G	ENSP00000489398.1:p.Leu939Val
ENST00000635406.1:n.305C>G
NM_000053.3:c.2959C>G	NP_000044.2:p.Leu987Val
NM_001005918.2:c.2338C>G	NP_001005918.1:p.Leu780Val
NM_001243182.1:c.2626C>G	NP_001230111.1:p.Leu876Val
XM_005266423.2:c.2863C>G	XP_005266480.1:p.Leu955Val
XM_005266424.3:c.2863C>G	XP_005266481.1:p.Leu955Val
XM_005266427.2:c.2725C>G	XP_005266484.1:p.Leu909Val
XM_005266428.1:c.2707C>G	XP_005266485.1:p.Leu903Val
XM_005266430.3:c.2959C>G	XP_005266487.1:p.Leu987Val
XM_005266431.2:c.2923C>G	XP_005266488.1:p.Leu975Val
XM_005266432.2:c.2473C>G	XP_005266489.1:p.Leu825Val
XM_006719837.2:c.2863C>G	XP_006719900.1:p.Leu955Val
XM_006719838.1:c.775C>G	XP_006719901.1:p.Leu259Val
XM_006719839.1:c.775C>G	XP_006719902.1:p.Leu259Val
XM_011535117.1:c.2863C>G	XP_011533419.1:p.Leu955Val
XM_011535118.1:c.2824C>G	XP_011533420.1:p.Leu942Val
XM_011535119.1:c.2959C>G	XP_011533421.1:p.Leu987Val
XM_011535120.1:c.2545C>G	XP_011533422.1:p.Leu849Val
XM_011535121.1:c.2730+3622C>G	XP_011533423.1:n.2730+3622C>G
XM_011535122.1:c.1627C>G	XP_011533424.1:p.Leu543Val
XR_941601.1:n.3178C>G
XR_941602.1:n.3178C>G
XR_941603.1:n.3178C>G
XR_941604.1:n.3178C>G
NM_001330578.1:c.2725C>G	NP_001317507.1:p.Leu909Val
NM_001330579.1:c.2707C>G	NP_001317508.1:p.Leu903Val
XM_005266424.4:c.2863C>G	XP_005266481.1:p.Leu955Val
XM_005266430.4:c.2959C>G	XP_005266487.1:p.Leu987Val
XM_005266431.4:c.2923C>G	XP_005266488.1:p.Leu975Val
XM_006719837.3:c.2863C>G	XP_006719900.1:p.Leu955Val
XM_011535117.3:c.2863C>G	XP_011533419.1:p.Leu955Val
XM_017020627.1:c.2863C>G	XP_016876116.1:p.Leu955Val
NM_000053.4:c.2959C>G MANE Select	NP_000044.2:p.Leu987Val
NM_001005918.3:c.2338C>G	NP_001005918.1:p.Leu780Val
NM_001330579.2:c.2707C>G	NP_001317508.1:p.Leu903Val
NM_001243182.2:c.2626C>G	NP_001230111.1:p.Leu876Val
NM_001330578.2:c.2725C>G	NP_001317507.1:p.Leu909Val