Canonical Allele Identifier: CA483894923

Gene: ATP7B

Linked Data

• dbSNP Id: rs2139054779
• MyVariant Identifiers: chr13:g.52520498A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946362A>G , CM000675.2:g.51946362A>G	GRCh38
NC_000013.10:g.52520498A>G , CM000675.1:g.52520498A>G	GRCh37
NC_000013.9:g.51418499A>G	NCBI36
NG_008806.1:g.70133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*815T>C	ENSP00000489512.2:n.*815T>C
ENST00000673864.2:c.*1726T>C	ENSP00000501045.2:n.*1726T>C
ENST00000674147.2:c.2361T>C	ENSP00000500964.2:p.Ala787=
ENST00000242839.10:c.2982T>C MANE Select	ENSP00000242839.5:p.Ala994=
ENST00000344297.9:c.2361T>C	ENSP00000342559.5:p.Ala787=
ENST00000400366.6:c.2649T>C	ENSP00000383217.3:p.Ala883=
ENST00000448424.7:c.2730T>C	ENSP00000416738.3:p.Ala910=
ENST00000673772.1:c.2748T>C	ENSP00000501168.1:p.Ala916=
ENST00000673867.1:n.1129T>C
ENST00000674126.1:n.3345T>C
ENST00000674147.1:c.1917T>C	ENSP00000500964.1:p.Ala639=
ENST00000242839.8:c.2982T>C	ENSP00000242839.4:p.Ala994=
ENST00000344297.8:c.2361T>C	ENSP00000342559.5:p.Ala787=
ENST00000400366.5:c.2649T>C	ENSP00000383217.3:p.Ala883=
ENST00000400370.8:c.1692T>C	ENSP00000383221.3:p.Ala564=
ENST00000418097.7:c.2866-2071T>C	ENSP00000393343.2:n.2866-2071T>C
ENST00000448424.6:c.2748T>C	ENSP00000416738.2:p.Ala916=
ENST00000466629.1:n.202T>C
ENST00000634296.1:c.943T>C
ENST00000634308.1:c.*83T>C	ENSP00000489234.1:n.*83T>C
ENST00000634620.1:n.3726T>C
ENST00000634810.1:n.2327T>C
ENST00000634844.1:c.2838T>C	ENSP00000489398.1:p.Ala946=
ENST00000635406.1:n.328T>C
NM_000053.3:c.2982T>C	NP_000044.2:p.Ala994=
NM_001005918.2:c.2361T>C	NP_001005918.1:p.Ala787=
NM_001243182.1:c.2649T>C	NP_001230111.1:p.Ala883=
XM_005266423.2:c.2886T>C	XP_005266480.1:p.Ala962=
XM_005266424.3:c.2886T>C	XP_005266481.1:p.Ala962=
XM_005266427.2:c.2748T>C	XP_005266484.1:p.Ala916=
XM_005266428.1:c.2730T>C	XP_005266485.1:p.Ala910=
XM_005266430.3:c.2982T>C	XP_005266487.1:p.Ala994=
XM_005266431.2:c.2946T>C	XP_005266488.1:p.Ala982=
XM_005266432.2:c.2496T>C	XP_005266489.1:p.Ala832=
XM_006719837.2:c.2886T>C	XP_006719900.1:p.Ala962=
XM_006719838.1:c.798T>C	XP_006719901.1:p.Ala266=
XM_006719839.1:c.798T>C	XP_006719902.1:p.Ala266=
XM_011535117.1:c.2886T>C	XP_011533419.1:p.Ala962=
XM_011535118.1:c.2847T>C	XP_011533420.1:p.Ala949=
XM_011535119.1:c.2982T>C	XP_011533421.1:p.Ala994=
XM_011535120.1:c.2568T>C	XP_011533422.1:p.Ala856=
XM_011535121.1:c.2730+3645T>C	XP_011533423.1:n.2730+3645T>C
XM_011535122.1:c.1650T>C	XP_011533424.1:p.Ala550=
XR_941601.1:n.3201T>C
XR_941602.1:n.3201T>C
XR_941603.1:n.3201T>C
XR_941604.1:n.3201T>C
NM_001330578.1:c.2748T>C	NP_001317507.1:p.Ala916=
NM_001330579.1:c.2730T>C	NP_001317508.1:p.Ala910=
XM_005266424.4:c.2886T>C	XP_005266481.1:p.Ala962=
XM_005266430.4:c.2982T>C	XP_005266487.1:p.Ala994=
XM_005266431.4:c.2946T>C	XP_005266488.1:p.Ala982=
XM_006719837.3:c.2886T>C	XP_006719900.1:p.Ala962=
XM_011535117.3:c.2886T>C	XP_011533419.1:p.Ala962=
XM_017020627.1:c.2886T>C	XP_016876116.1:p.Ala962=
NM_000053.4:c.2982T>C MANE Select	NP_000044.2:p.Ala994=
NM_001005918.3:c.2361T>C	NP_001005918.1:p.Ala787=
NM_001330579.2:c.2730T>C	NP_001317508.1:p.Ala910=
NM_001243182.2:c.2649T>C	NP_001230111.1:p.Ala883=
NM_001330578.2:c.2748T>C	NP_001317507.1:p.Ala916=