Canonical Allele Identifier: CA388030027

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518312A>G (hg19) ; chr13:g.51944176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944176A>G , CM000675.2:g.51944176A>G	GRCh38
NC_000013.10:g.52518312A>G , CM000675.1:g.52518312A>G	GRCh37
NC_000013.9:g.51416313A>G	NCBI36
NG_008806.1:g.72319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1622T>C	ENSP00000489512.2:n.*894-1622T>C
ENST00000673864.2:c.*1920T>C	ENSP00000501045.2:n.*1920T>C
ENST00000674147.2:c.2555T>C	ENSP00000500964.2:p.Val852Ala
ENST00000242839.10:c.3176T>C MANE Select	ENSP00000242839.5:p.Val1059Ala
ENST00000344297.9:c.2555T>C	ENSP00000342559.5:p.Val852Ala
ENST00000400366.6:c.2843T>C	ENSP00000383217.3:p.Val948Ala
ENST00000448424.7:c.2924T>C	ENSP00000416738.3:p.Val975Ala
ENST00000673772.1:c.2942T>C	ENSP00000501168.1:p.Val981Ala
ENST00000673867.1:n.3315T>C
ENST00000674126.1:n.3539T>C
ENST00000674147.1:c.2111T>C	ENSP00000500964.1:p.Val704Ala
ENST00000242839.8:c.3176T>C	ENSP00000242839.4:p.Val1059Ala
ENST00000344297.8:c.2555T>C	ENSP00000342559.5:p.Val852Ala
ENST00000400366.5:c.2843T>C	ENSP00000383217.3:p.Val948Ala
ENST00000400370.8:c.1886T>C	ENSP00000383221.3:p.Val629Ala
ENST00000418097.7:c.2981T>C	ENSP00000393343.2:p.Val994Ala
ENST00000448424.6:c.2942T>C	ENSP00000416738.2:p.Val981Ala
ENST00000466629.1:n.396T>C
ENST00000634296.1:c.1022-1622T>C
ENST00000634308.1:c.*277T>C	ENSP00000489234.1:n.*277T>C
ENST00000634620.1:n.3920T>C
ENST00000634810.1:n.2521T>C
ENST00000634844.1:c.3032T>C	ENSP00000489398.1:p.Val1011Ala
NM_000053.3:c.3176T>C	NP_000044.2:p.Val1059Ala
NM_001005918.2:c.2555T>C	NP_001005918.1:p.Val852Ala
NM_001243182.1:c.2843T>C	NP_001230111.1:p.Val948Ala
XM_005266423.2:c.3080T>C	XP_005266480.1:p.Val1027Ala
XM_005266424.3:c.3080T>C	XP_005266481.1:p.Val1027Ala
XM_005266427.2:c.2942T>C	XP_005266484.1:p.Val981Ala
XM_005266428.1:c.2924T>C	XP_005266485.1:p.Val975Ala
XM_005266430.3:c.3176T>C	XP_005266487.1:p.Val1059Ala
XM_005266431.2:c.3140T>C	XP_005266488.1:p.Val1047Ala
XM_005266432.2:c.2690T>C	XP_005266489.1:p.Val897Ala
XM_006719837.2:c.3080T>C	XP_006719900.1:p.Val1027Ala
XM_006719838.1:c.992T>C	XP_006719901.1:p.Val331Ala
XM_006719839.1:c.877-1622T>C	XP_006719902.1:n.877-1622T>C
XM_011535117.1:c.3080T>C	XP_011533419.1:p.Val1027Ala
XM_011535118.1:c.3041T>C	XP_011533420.1:p.Val1014Ala
XM_011535119.1:c.3061-1622T>C	XP_011533421.1:n.3061-1622T>C
XM_011535120.1:c.2762T>C	XP_011533422.1:p.Val921Ala
XM_011535121.1:c.2731-1622T>C	XP_011533423.1:n.2731-1622T>C
XM_011535122.1:c.1844T>C	XP_011533424.1:p.Val615Ala
XR_941601.1:n.3395T>C
XR_941602.1:n.3395T>C
XR_941603.1:n.3395T>C
XR_941604.1:n.3395T>C
NM_001330578.1:c.2942T>C	NP_001317507.1:p.Val981Ala
NM_001330579.1:c.2924T>C	NP_001317508.1:p.Val975Ala
XM_005266424.4:c.3080T>C	XP_005266481.1:p.Val1027Ala
XM_005266430.4:c.3176T>C	XP_005266487.1:p.Val1059Ala
XM_005266431.4:c.3140T>C	XP_005266488.1:p.Val1047Ala
XM_006719837.3:c.3080T>C	XP_006719900.1:p.Val1027Ala
XM_011535117.3:c.3080T>C	XP_011533419.1:p.Val1027Ala
XM_017020627.1:c.3080T>C	XP_016876116.1:p.Val1027Ala
NM_000053.4:c.3176T>C MANE Select	NP_000044.2:p.Val1059Ala
NM_001005918.3:c.2555T>C	NP_001005918.1:p.Val852Ala
NM_001330579.2:c.2924T>C	NP_001317508.1:p.Val975Ala
NM_001243182.2:c.2843T>C	NP_001230111.1:p.Val948Ala
NM_001330578.2:c.2942T>C	NP_001317507.1:p.Val981Ala