Canonical Allele Identifier: CA388030032

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518313C>A (hg19) ; chr13:g.51944177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944177C>A , CM000675.2:g.51944177C>A	GRCh38
NC_000013.10:g.52518313C>A , CM000675.1:g.52518313C>A	GRCh37
NC_000013.9:g.51416314C>A	NCBI36
NG_008806.1:g.72318G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1623G>T	ENSP00000489512.2:n.*894-1623G>T
ENST00000673864.2:c.*1919G>T	ENSP00000501045.2:n.*1919G>T
ENST00000674147.2:c.2554G>T	ENSP00000500964.2:p.Val852Leu
ENST00000242839.10:c.3175G>T MANE Select	ENSP00000242839.5:p.Val1059Leu
ENST00000344297.9:c.2554G>T	ENSP00000342559.5:p.Val852Leu
ENST00000400366.6:c.2842G>T	ENSP00000383217.3:p.Val948Leu
ENST00000448424.7:c.2923G>T	ENSP00000416738.3:p.Val975Leu
ENST00000673772.1:c.2941G>T	ENSP00000501168.1:p.Val981Leu
ENST00000673867.1:n.3314G>T
ENST00000674126.1:n.3538G>T
ENST00000674147.1:c.2110G>T	ENSP00000500964.1:p.Val704Leu
ENST00000242839.8:c.3175G>T	ENSP00000242839.4:p.Val1059Leu
ENST00000344297.8:c.2554G>T	ENSP00000342559.5:p.Val852Leu
ENST00000400366.5:c.2842G>T	ENSP00000383217.3:p.Val948Leu
ENST00000400370.8:c.1885G>T	ENSP00000383221.3:p.Val629Leu
ENST00000418097.7:c.2980G>T	ENSP00000393343.2:p.Val994Leu
ENST00000448424.6:c.2941G>T	ENSP00000416738.2:p.Val981Leu
ENST00000466629.1:n.395G>T
ENST00000634296.1:c.1022-1623G>T
ENST00000634308.1:c.*276G>T	ENSP00000489234.1:n.*276G>T
ENST00000634620.1:n.3919G>T
ENST00000634810.1:n.2520G>T
ENST00000634844.1:c.3031G>T	ENSP00000489398.1:p.Val1011Leu
NM_000053.3:c.3175G>T	NP_000044.2:p.Val1059Leu
NM_001005918.2:c.2554G>T	NP_001005918.1:p.Val852Leu
NM_001243182.1:c.2842G>T	NP_001230111.1:p.Val948Leu
XM_005266423.2:c.3079G>T	XP_005266480.1:p.Val1027Leu
XM_005266424.3:c.3079G>T	XP_005266481.1:p.Val1027Leu
XM_005266427.2:c.2941G>T	XP_005266484.1:p.Val981Leu
XM_005266428.1:c.2923G>T	XP_005266485.1:p.Val975Leu
XM_005266430.3:c.3175G>T	XP_005266487.1:p.Val1059Leu
XM_005266431.2:c.3139G>T	XP_005266488.1:p.Val1047Leu
XM_005266432.2:c.2689G>T	XP_005266489.1:p.Val897Leu
XM_006719837.2:c.3079G>T	XP_006719900.1:p.Val1027Leu
XM_006719838.1:c.991G>T	XP_006719901.1:p.Val331Leu
XM_006719839.1:c.877-1623G>T	XP_006719902.1:n.877-1623G>T
XM_011535117.1:c.3079G>T	XP_011533419.1:p.Val1027Leu
XM_011535118.1:c.3040G>T	XP_011533420.1:p.Val1014Leu
XM_011535119.1:c.3061-1623G>T	XP_011533421.1:n.3061-1623G>T
XM_011535120.1:c.2761G>T	XP_011533422.1:p.Val921Leu
XM_011535121.1:c.2731-1623G>T	XP_011533423.1:n.2731-1623G>T
XM_011535122.1:c.1843G>T	XP_011533424.1:p.Val615Leu
XR_941601.1:n.3394G>T
XR_941602.1:n.3394G>T
XR_941603.1:n.3394G>T
XR_941604.1:n.3394G>T
NM_001330578.1:c.2941G>T	NP_001317507.1:p.Val981Leu
NM_001330579.1:c.2923G>T	NP_001317508.1:p.Val975Leu
XM_005266424.4:c.3079G>T	XP_005266481.1:p.Val1027Leu
XM_005266430.4:c.3175G>T	XP_005266487.1:p.Val1059Leu
XM_005266431.4:c.3139G>T	XP_005266488.1:p.Val1047Leu
XM_006719837.3:c.3079G>T	XP_006719900.1:p.Val1027Leu
XM_011535117.3:c.3079G>T	XP_011533419.1:p.Val1027Leu
XM_017020627.1:c.3079G>T	XP_016876116.1:p.Val1027Leu
NM_000053.4:c.3175G>T MANE Select	NP_000044.2:p.Val1059Leu
NM_001005918.3:c.2554G>T	NP_001005918.1:p.Val852Leu
NM_001330579.2:c.2923G>T	NP_001317508.1:p.Val975Leu
NM_001243182.2:c.2842G>T	NP_001230111.1:p.Val948Leu
NM_001330578.2:c.2941G>T	NP_001317507.1:p.Val981Leu