Canonical Allele Identifier: CA6988865

Gene: ATP7B

Linked Data

• dbSNP Id: rs770340441
• ExAC: 13:52520568 G / C
• gnomAD v2: 13-52520568-G-C
• gnomAD v4: 13-51946432-G-C
• MyVariant Identifiers: chr13:g.52520568G>C (hg19) ; chr13:g.51946432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946432G>C , CM000675.2:g.51946432G>C	GRCh38
NC_000013.10:g.52520568G>C , CM000675.1:g.52520568G>C	GRCh37
NC_000013.9:g.51418569G>C	NCBI36
NG_008806.1:g.70063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*745C>G	ENSP00000489512.2:n.*745C>G
ENST00000673864.2:c.*1656C>G	ENSP00000501045.2:n.*1656C>G
ENST00000674147.2:c.2291C>G	ENSP00000500964.2:p.Ala764Gly
ENST00000242839.10:c.2912C>G MANE Select	ENSP00000242839.5:p.Ala971Gly
ENST00000344297.9:c.2291C>G	ENSP00000342559.5:p.Ala764Gly
ENST00000400366.6:c.2579C>G	ENSP00000383217.3:p.Ala860Gly
ENST00000448424.7:c.2660C>G	ENSP00000416738.3:p.Ala887Gly
ENST00000673772.1:c.2678C>G	ENSP00000501168.1:p.Ala893Gly
ENST00000673867.1:n.1059C>G
ENST00000674126.1:n.3275C>G
ENST00000674147.1:c.1847C>G	ENSP00000500964.1:p.Ala616Gly
ENST00000242839.8:c.2912C>G	ENSP00000242839.4:p.Ala971Gly
ENST00000344297.8:c.2291C>G	ENSP00000342559.5:p.Ala764Gly
ENST00000400366.5:c.2579C>G	ENSP00000383217.3:p.Ala860Gly
ENST00000400370.8:c.1622C>G	ENSP00000383221.3:p.Ala541Gly
ENST00000418097.7:c.2866-2141C>G	ENSP00000393343.2:n.2866-2141C>G
ENST00000448424.6:c.2678C>G	ENSP00000416738.2:p.Ala893Gly
ENST00000466629.1:n.132C>G
ENST00000634296.1:c.873C>G
ENST00000634308.1:c.*13C>G	ENSP00000489234.1:n.*13C>G
ENST00000634620.1:n.3656C>G
ENST00000634810.1:n.2257C>G
ENST00000634844.1:c.2768C>G	ENSP00000489398.1:p.Ala923Gly
ENST00000635406.1:n.258C>G
NM_000053.3:c.2912C>G	NP_000044.2:p.Ala971Gly
NM_001005918.2:c.2291C>G	NP_001005918.1:p.Ala764Gly
NM_001243182.1:c.2579C>G	NP_001230111.1:p.Ala860Gly
XM_005266423.2:c.2816C>G	XP_005266480.1:p.Ala939Gly
XM_005266424.3:c.2816C>G	XP_005266481.1:p.Ala939Gly
XM_005266427.2:c.2678C>G	XP_005266484.1:p.Ala893Gly
XM_005266428.1:c.2660C>G	XP_005266485.1:p.Ala887Gly
XM_005266430.3:c.2912C>G	XP_005266487.1:p.Ala971Gly
XM_005266431.2:c.2876C>G	XP_005266488.1:p.Ala959Gly
XM_005266432.2:c.2426C>G	XP_005266489.1:p.Ala809Gly
XM_006719837.2:c.2816C>G	XP_006719900.1:p.Ala939Gly
XM_006719838.1:c.728C>G	XP_006719901.1:p.Ala243Gly
XM_006719839.1:c.728C>G	XP_006719902.1:p.Ala243Gly
XM_011535117.1:c.2816C>G	XP_011533419.1:p.Ala939Gly
XM_011535118.1:c.2777C>G	XP_011533420.1:p.Ala926Gly
XM_011535119.1:c.2912C>G	XP_011533421.1:p.Ala971Gly
XM_011535120.1:c.2498C>G	XP_011533422.1:p.Ala833Gly
XM_011535121.1:c.2730+3575C>G	XP_011533423.1:n.2730+3575C>G
XM_011535122.1:c.1580C>G	XP_011533424.1:p.Ala527Gly
XR_941601.1:n.3131C>G
XR_941602.1:n.3131C>G
XR_941603.1:n.3131C>G
XR_941604.1:n.3131C>G
NM_001330578.1:c.2678C>G	NP_001317507.1:p.Ala893Gly
NM_001330579.1:c.2660C>G	NP_001317508.1:p.Ala887Gly
XM_005266424.4:c.2816C>G	XP_005266481.1:p.Ala939Gly
XM_005266430.4:c.2912C>G	XP_005266487.1:p.Ala971Gly
XM_005266431.4:c.2876C>G	XP_005266488.1:p.Ala959Gly
XM_006719837.3:c.2816C>G	XP_006719900.1:p.Ala939Gly
XM_011535117.3:c.2816C>G	XP_011533419.1:p.Ala939Gly
XM_017020627.1:c.2816C>G	XP_016876116.1:p.Ala939Gly
NM_000053.4:c.2912C>G MANE Select	NP_000044.2:p.Ala971Gly
NM_001005918.3:c.2291C>G	NP_001005918.1:p.Ala764Gly
NM_001330579.2:c.2660C>G	NP_001317508.1:p.Ala887Gly
NM_001243182.2:c.2579C>G	NP_001230111.1:p.Ala860Gly
NM_001330578.2:c.2678C>G	NP_001317507.1:p.Ala893Gly