Canonical Allele Identifier: CA388030029

Gene: ATP7B

Linked Data

• dbSNP Id: rs1409413130
• MyVariant Identifiers: chr13:g.52518312A>C (hg19) ; chr13:g.51944176A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1622T>G	ENSP00000489512.2:n.*894-1622T>G
ENST00000673864.2:c.*1920T>G	ENSP00000501045.2:n.*1920T>G
ENST00000674147.2:c.2555T>G	ENSP00000500964.2:p.Val852Gly
ENST00000242839.10:c.3176T>G MANE Select	ENSP00000242839.5:p.Val1059Gly
ENST00000344297.9:c.2555T>G	ENSP00000342559.5:p.Val852Gly
ENST00000400366.6:c.2843T>G	ENSP00000383217.3:p.Val948Gly
ENST00000448424.7:c.2924T>G	ENSP00000416738.3:p.Val975Gly
ENST00000673772.1:c.2942T>G	ENSP00000501168.1:p.Val981Gly
ENST00000673867.1:n.3315T>G
ENST00000674126.1:n.3539T>G
ENST00000674147.1:c.2111T>G	ENSP00000500964.1:p.Val704Gly
ENST00000242839.8:c.3176T>G	ENSP00000242839.4:p.Val1059Gly
ENST00000344297.8:c.2555T>G	ENSP00000342559.5:p.Val852Gly
ENST00000400366.5:c.2843T>G	ENSP00000383217.3:p.Val948Gly
ENST00000400370.8:c.1886T>G	ENSP00000383221.3:p.Val629Gly
ENST00000418097.7:c.2981T>G	ENSP00000393343.2:p.Val994Gly
ENST00000448424.6:c.2942T>G	ENSP00000416738.2:p.Val981Gly
ENST00000466629.1:n.396T>G
ENST00000634296.1:c.1022-1622T>G
ENST00000634308.1:c.*277T>G	ENSP00000489234.1:n.*277T>G
ENST00000634620.1:n.3920T>G
ENST00000634810.1:n.2521T>G
ENST00000634844.1:c.3032T>G	ENSP00000489398.1:p.Val1011Gly
NM_000053.3:c.3176T>G	NP_000044.2:p.Val1059Gly
NM_001005918.2:c.2555T>G	NP_001005918.1:p.Val852Gly
NM_001243182.1:c.2843T>G	NP_001230111.1:p.Val948Gly
XM_005266423.2:c.3080T>G	XP_005266480.1:p.Val1027Gly
XM_005266424.3:c.3080T>G	XP_005266481.1:p.Val1027Gly
XM_005266427.2:c.2942T>G	XP_005266484.1:p.Val981Gly
XM_005266428.1:c.2924T>G	XP_005266485.1:p.Val975Gly
XM_005266430.3:c.3176T>G	XP_005266487.1:p.Val1059Gly
XM_005266431.2:c.3140T>G	XP_005266488.1:p.Val1047Gly
XM_005266432.2:c.2690T>G	XP_005266489.1:p.Val897Gly
XM_006719837.2:c.3080T>G	XP_006719900.1:p.Val1027Gly
XM_006719838.1:c.992T>G	XP_006719901.1:p.Val331Gly
XM_006719839.1:c.877-1622T>G	XP_006719902.1:n.877-1622T>G
XM_011535117.1:c.3080T>G	XP_011533419.1:p.Val1027Gly
XM_011535118.1:c.3041T>G	XP_011533420.1:p.Val1014Gly
XM_011535119.1:c.3061-1622T>G	XP_011533421.1:n.3061-1622T>G
XM_011535120.1:c.2762T>G	XP_011533422.1:p.Val921Gly
XM_011535121.1:c.2731-1622T>G	XP_011533423.1:n.2731-1622T>G
XM_011535122.1:c.1844T>G	XP_011533424.1:p.Val615Gly
XR_941601.1:n.3395T>G
XR_941602.1:n.3395T>G
XR_941603.1:n.3395T>G
XR_941604.1:n.3395T>G
NM_001330578.1:c.2942T>G	NP_001317507.1:p.Val981Gly
NM_001330579.1:c.2924T>G	NP_001317508.1:p.Val975Gly
XM_005266424.4:c.3080T>G	XP_005266481.1:p.Val1027Gly
XM_005266430.4:c.3176T>G	XP_005266487.1:p.Val1059Gly
XM_005266431.4:c.3140T>G	XP_005266488.1:p.Val1047Gly
XM_006719837.3:c.3080T>G	XP_006719900.1:p.Val1027Gly
XM_011535117.3:c.3080T>G	XP_011533419.1:p.Val1027Gly
XM_017020627.1:c.3080T>G	XP_016876116.1:p.Val1027Gly
NM_000053.4:c.3176T>G MANE Select	NP_000044.2:p.Val1059Gly
NM_001005918.3:c.2555T>G	NP_001005918.1:p.Val852Gly
NM_001330579.2:c.2924T>G	NP_001317508.1:p.Val975Gly
NM_001243182.2:c.2843T>G	NP_001230111.1:p.Val948Gly
NM_001330578.2:c.2942T>G	NP_001317507.1:p.Val981Gly