Canonical Allele Identifier: CA388030457

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944252-G-C
• MyVariant Identifiers: chr13:g.52518388G>C (hg19) ; chr13:g.51944252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944252G>C , CM000675.2:g.51944252G>C	GRCh38
NC_000013.10:g.52518388G>C , CM000675.1:g.52518388G>C	GRCh37
NC_000013.9:g.51416389G>C	NCBI36
NG_008806.1:g.72243C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1698C>G	ENSP00000489512.2:n.*894-1698C>G
ENST00000673864.2:c.*1844C>G	ENSP00000501045.2:n.*1844C>G
ENST00000674147.2:c.2479C>G	ENSP00000500964.2:p.His827Asp
ENST00000242839.10:c.3100C>G MANE Select	ENSP00000242839.5:p.His1034Asp
ENST00000344297.9:c.2479C>G	ENSP00000342559.5:p.His827Asp
ENST00000400366.6:c.2767C>G	ENSP00000383217.3:p.His923Asp
ENST00000448424.7:c.2848C>G	ENSP00000416738.3:p.His950Asp
ENST00000673772.1:c.2866C>G	ENSP00000501168.1:p.His956Asp
ENST00000673867.1:n.3239C>G
ENST00000674126.1:n.3463C>G
ENST00000674147.1:c.2035C>G	ENSP00000500964.1:p.His679Asp
ENST00000242839.8:c.3100C>G	ENSP00000242839.4:p.His1034Asp
ENST00000344297.8:c.2479C>G	ENSP00000342559.5:p.His827Asp
ENST00000400366.5:c.2767C>G	ENSP00000383217.3:p.His923Asp
ENST00000400370.8:c.1810C>G	ENSP00000383221.3:p.His604Asp
ENST00000418097.7:c.2905C>G	ENSP00000393343.2:p.His969Asp
ENST00000448424.6:c.2866C>G	ENSP00000416738.2:p.His956Asp
ENST00000466629.1:n.320C>G
ENST00000634296.1:c.1022-1698C>G
ENST00000634308.1:c.*201C>G	ENSP00000489234.1:n.*201C>G
ENST00000634620.1:n.3844C>G
ENST00000634810.1:n.2445C>G
ENST00000634844.1:c.2956C>G	ENSP00000489398.1:p.His986Asp
ENST00000635406.1:n.446C>G
NM_000053.3:c.3100C>G	NP_000044.2:p.His1034Asp
NM_001005918.2:c.2479C>G	NP_001005918.1:p.His827Asp
NM_001243182.1:c.2767C>G	NP_001230111.1:p.His923Asp
XM_005266423.2:c.3004C>G	XP_005266480.1:p.His1002Asp
XM_005266424.3:c.3004C>G	XP_005266481.1:p.His1002Asp
XM_005266427.2:c.2866C>G	XP_005266484.1:p.His956Asp
XM_005266428.1:c.2848C>G	XP_005266485.1:p.His950Asp
XM_005266430.3:c.3100C>G	XP_005266487.1:p.His1034Asp
XM_005266431.2:c.3064C>G	XP_005266488.1:p.His1022Asp
XM_005266432.2:c.2614C>G	XP_005266489.1:p.His872Asp
XM_006719837.2:c.3004C>G	XP_006719900.1:p.His1002Asp
XM_006719838.1:c.916C>G	XP_006719901.1:p.His306Asp
XM_006719839.1:c.877-1698C>G	XP_006719902.1:n.877-1698C>G
XM_011535117.1:c.3004C>G	XP_011533419.1:p.His1002Asp
XM_011535118.1:c.2965C>G	XP_011533420.1:p.His989Asp
XM_011535119.1:c.3061-1698C>G	XP_011533421.1:n.3061-1698C>G
XM_011535120.1:c.2686C>G	XP_011533422.1:p.His896Asp
XM_011535121.1:c.2731-1698C>G	XP_011533423.1:n.2731-1698C>G
XM_011535122.1:c.1768C>G	XP_011533424.1:p.His590Asp
XR_941601.1:n.3319C>G
XR_941602.1:n.3319C>G
XR_941603.1:n.3319C>G
XR_941604.1:n.3319C>G
NM_001330578.1:c.2866C>G	NP_001317507.1:p.His956Asp
NM_001330579.1:c.2848C>G	NP_001317508.1:p.His950Asp
XM_005266424.4:c.3004C>G	XP_005266481.1:p.His1002Asp
XM_005266430.4:c.3100C>G	XP_005266487.1:p.His1034Asp
XM_005266431.4:c.3064C>G	XP_005266488.1:p.His1022Asp
XM_006719837.3:c.3004C>G	XP_006719900.1:p.His1002Asp
XM_011535117.3:c.3004C>G	XP_011533419.1:p.His1002Asp
XM_017020627.1:c.3004C>G	XP_016876116.1:p.His1002Asp
NM_000053.4:c.3100C>G MANE Select	NP_000044.2:p.His1034Asp
NM_001005918.3:c.2479C>G	NP_001005918.1:p.His827Asp
NM_001330579.2:c.2848C>G	NP_001317508.1:p.His950Asp
NM_001243182.2:c.2767C>G	NP_001230111.1:p.His923Asp
NM_001330578.2:c.2866C>G	NP_001317507.1:p.His956Asp