Canonical Allele Identifier: CA388032330

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520538A>G (hg19) ; chr13:g.51946402A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946402A>G , CM000675.2:g.51946402A>G	GRCh38
NC_000013.10:g.52520538A>G , CM000675.1:g.52520538A>G	GRCh37
NC_000013.9:g.51418539A>G	NCBI36
NG_008806.1:g.70093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*775T>C	ENSP00000489512.2:n.*775T>C
ENST00000673864.2:c.*1686T>C	ENSP00000501045.2:n.*1686T>C
ENST00000674147.2:c.2321T>C	ENSP00000500964.2:p.Ile774Thr
ENST00000242839.10:c.2942T>C MANE Select	ENSP00000242839.5:p.Ile981Thr
ENST00000344297.9:c.2321T>C	ENSP00000342559.5:p.Ile774Thr
ENST00000400366.6:c.2609T>C	ENSP00000383217.3:p.Ile870Thr
ENST00000448424.7:c.2690T>C	ENSP00000416738.3:p.Ile897Thr
ENST00000673772.1:c.2708T>C	ENSP00000501168.1:p.Ile903Thr
ENST00000673867.1:n.1089T>C
ENST00000674126.1:n.3305T>C
ENST00000674147.1:c.1877T>C	ENSP00000500964.1:p.Ile626Thr
ENST00000242839.8:c.2942T>C	ENSP00000242839.4:p.Ile981Thr
ENST00000344297.8:c.2321T>C	ENSP00000342559.5:p.Ile774Thr
ENST00000400366.5:c.2609T>C	ENSP00000383217.3:p.Ile870Thr
ENST00000400370.8:c.1652T>C	ENSP00000383221.3:p.Ile551Thr
ENST00000418097.7:c.2866-2111T>C	ENSP00000393343.2:n.2866-2111T>C
ENST00000448424.6:c.2708T>C	ENSP00000416738.2:p.Ile903Thr
ENST00000466629.1:n.162T>C
ENST00000634296.1:c.903T>C
ENST00000634308.1:c.*43T>C	ENSP00000489234.1:n.*43T>C
ENST00000634620.1:n.3686T>C
ENST00000634810.1:n.2287T>C
ENST00000634844.1:c.2798T>C	ENSP00000489398.1:p.Ile933Thr
ENST00000635406.1:n.288T>C
NM_000053.3:c.2942T>C	NP_000044.2:p.Ile981Thr
NM_001005918.2:c.2321T>C	NP_001005918.1:p.Ile774Thr
NM_001243182.1:c.2609T>C	NP_001230111.1:p.Ile870Thr
XM_005266423.2:c.2846T>C	XP_005266480.1:p.Ile949Thr
XM_005266424.3:c.2846T>C	XP_005266481.1:p.Ile949Thr
XM_005266427.2:c.2708T>C	XP_005266484.1:p.Ile903Thr
XM_005266428.1:c.2690T>C	XP_005266485.1:p.Ile897Thr
XM_005266430.3:c.2942T>C	XP_005266487.1:p.Ile981Thr
XM_005266431.2:c.2906T>C	XP_005266488.1:p.Ile969Thr
XM_005266432.2:c.2456T>C	XP_005266489.1:p.Ile819Thr
XM_006719837.2:c.2846T>C	XP_006719900.1:p.Ile949Thr
XM_006719838.1:c.758T>C	XP_006719901.1:p.Ile253Thr
XM_006719839.1:c.758T>C	XP_006719902.1:p.Ile253Thr
XM_011535117.1:c.2846T>C	XP_011533419.1:p.Ile949Thr
XM_011535118.1:c.2807T>C	XP_011533420.1:p.Ile936Thr
XM_011535119.1:c.2942T>C	XP_011533421.1:p.Ile981Thr
XM_011535120.1:c.2528T>C	XP_011533422.1:p.Ile843Thr
XM_011535121.1:c.2730+3605T>C	XP_011533423.1:n.2730+3605T>C
XM_011535122.1:c.1610T>C	XP_011533424.1:p.Ile537Thr
XR_941601.1:n.3161T>C
XR_941602.1:n.3161T>C
XR_941603.1:n.3161T>C
XR_941604.1:n.3161T>C
NM_001330578.1:c.2708T>C	NP_001317507.1:p.Ile903Thr
NM_001330579.1:c.2690T>C	NP_001317508.1:p.Ile897Thr
XM_005266424.4:c.2846T>C	XP_005266481.1:p.Ile949Thr
XM_005266430.4:c.2942T>C	XP_005266487.1:p.Ile981Thr
XM_005266431.4:c.2906T>C	XP_005266488.1:p.Ile969Thr
XM_006719837.3:c.2846T>C	XP_006719900.1:p.Ile949Thr
XM_011535117.3:c.2846T>C	XP_011533419.1:p.Ile949Thr
XM_017020627.1:c.2846T>C	XP_016876116.1:p.Ile949Thr
NM_000053.4:c.2942T>C MANE Select	NP_000044.2:p.Ile981Thr
NM_001005918.3:c.2321T>C	NP_001005918.1:p.Ile774Thr
NM_001330579.2:c.2690T>C	NP_001317508.1:p.Ile897Thr
NM_001243182.2:c.2609T>C	NP_001230111.1:p.Ile870Thr
NM_001330578.2:c.2708T>C	NP_001317507.1:p.Ile903Thr