Canonical Allele Identifier: CA388030719

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944279-T-C
• MyVariant Identifiers: chr13:g.52518415T>C (hg19) ; chr13:g.51944279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944279T>C , CM000675.2:g.51944279T>C	GRCh38
NC_000013.10:g.52518415T>C , CM000675.1:g.52518415T>C	GRCh37
NC_000013.9:g.51416416T>C	NCBI36
NG_008806.1:g.72216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1725A>G	ENSP00000489512.2:n.*894-1725A>G
ENST00000673864.2:c.*1817A>G	ENSP00000501045.2:n.*1817A>G
ENST00000674147.2:c.2452A>G	ENSP00000500964.2:p.Met818Val
ENST00000242839.10:c.3073A>G MANE Select	ENSP00000242839.5:p.Met1025Val
ENST00000344297.9:c.2452A>G	ENSP00000342559.5:p.Met818Val
ENST00000400366.6:c.2740A>G	ENSP00000383217.3:p.Met914Val
ENST00000448424.7:c.2821A>G	ENSP00000416738.3:p.Met941Val
ENST00000673772.1:c.2839A>G	ENSP00000501168.1:p.Met947Val
ENST00000673867.1:n.3212A>G
ENST00000674126.1:n.3436A>G
ENST00000674147.1:c.2008A>G	ENSP00000500964.1:p.Met670Val
ENST00000242839.8:c.3073A>G	ENSP00000242839.4:p.Met1025Val
ENST00000344297.8:c.2452A>G	ENSP00000342559.5:p.Met818Val
ENST00000400366.5:c.2740A>G	ENSP00000383217.3:p.Met914Val
ENST00000400370.8:c.1783A>G	ENSP00000383221.3:p.Met595Val
ENST00000418097.7:c.2878A>G	ENSP00000393343.2:p.Met960Val
ENST00000448424.6:c.2839A>G	ENSP00000416738.2:p.Met947Val
ENST00000466629.1:n.293A>G
ENST00000634296.1:c.1022-1725A>G
ENST00000634308.1:c.*174A>G	ENSP00000489234.1:n.*174A>G
ENST00000634620.1:n.3817A>G
ENST00000634810.1:n.2418A>G
ENST00000634844.1:c.2929A>G	ENSP00000489398.1:p.Met977Val
ENST00000635406.1:n.419A>G
NM_000053.3:c.3073A>G	NP_000044.2:p.Met1025Val
NM_001005918.2:c.2452A>G	NP_001005918.1:p.Met818Val
NM_001243182.1:c.2740A>G	NP_001230111.1:p.Met914Val
XM_005266423.2:c.2977A>G	XP_005266480.1:p.Met993Val
XM_005266424.3:c.2977A>G	XP_005266481.1:p.Met993Val
XM_005266427.2:c.2839A>G	XP_005266484.1:p.Met947Val
XM_005266428.1:c.2821A>G	XP_005266485.1:p.Met941Val
XM_005266430.3:c.3073A>G	XP_005266487.1:p.Met1025Val
XM_005266431.2:c.3037A>G	XP_005266488.1:p.Met1013Val
XM_005266432.2:c.2587A>G	XP_005266489.1:p.Met863Val
XM_006719837.2:c.2977A>G	XP_006719900.1:p.Met993Val
XM_006719838.1:c.889A>G	XP_006719901.1:p.Met297Val
XM_006719839.1:c.877-1725A>G	XP_006719902.1:n.877-1725A>G
XM_011535117.1:c.2977A>G	XP_011533419.1:p.Met993Val
XM_011535118.1:c.2938A>G	XP_011533420.1:p.Met980Val
XM_011535119.1:c.3061-1725A>G	XP_011533421.1:n.3061-1725A>G
XM_011535120.1:c.2659A>G	XP_011533422.1:p.Met887Val
XM_011535121.1:c.2731-1725A>G	XP_011533423.1:n.2731-1725A>G
XM_011535122.1:c.1741A>G	XP_011533424.1:p.Met581Val
XR_941601.1:n.3292A>G
XR_941602.1:n.3292A>G
XR_941603.1:n.3292A>G
XR_941604.1:n.3292A>G
NM_001330578.1:c.2839A>G	NP_001317507.1:p.Met947Val
NM_001330579.1:c.2821A>G	NP_001317508.1:p.Met941Val
XM_005266424.4:c.2977A>G	XP_005266481.1:p.Met993Val
XM_005266430.4:c.3073A>G	XP_005266487.1:p.Met1025Val
XM_005266431.4:c.3037A>G	XP_005266488.1:p.Met1013Val
XM_006719837.3:c.2977A>G	XP_006719900.1:p.Met993Val
XM_011535117.3:c.2977A>G	XP_011533419.1:p.Met993Val
XM_017020627.1:c.2977A>G	XP_016876116.1:p.Met993Val
NM_000053.4:c.3073A>G MANE Select	NP_000044.2:p.Met1025Val
NM_001005918.3:c.2452A>G	NP_001005918.1:p.Met818Val
NM_001330579.2:c.2821A>G	NP_001317508.1:p.Met941Val
NM_001243182.2:c.2740A>G	NP_001230111.1:p.Met914Val
NM_001330578.2:c.2839A>G	NP_001317507.1:p.Met947Val