Canonical Allele Identifier: CA388032472

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520580A>G (hg19) ; chr13:g.51946444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946444A>G , CM000675.2:g.51946444A>G	GRCh38
NC_000013.10:g.52520580A>G , CM000675.1:g.52520580A>G	GRCh37
NC_000013.9:g.51418581A>G	NCBI36
NG_008806.1:g.70051T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*733T>C	ENSP00000489512.2:n.*733T>C
ENST00000673864.2:c.*1644T>C	ENSP00000501045.2:n.*1644T>C
ENST00000674147.2:c.2279T>C	ENSP00000500964.2:p.Ile760Thr
ENST00000242839.10:c.2900T>C MANE Select	ENSP00000242839.5:p.Ile967Thr
ENST00000344297.9:c.2279T>C	ENSP00000342559.5:p.Ile760Thr
ENST00000400366.6:c.2567T>C	ENSP00000383217.3:p.Ile856Thr
ENST00000448424.7:c.2648T>C	ENSP00000416738.3:p.Ile883Thr
ENST00000673772.1:c.2666T>C	ENSP00000501168.1:p.Ile889Thr
ENST00000673867.1:n.1047T>C
ENST00000674126.1:n.3263T>C
ENST00000674147.1:c.1835T>C	ENSP00000500964.1:p.Ile612Thr
ENST00000242839.8:c.2900T>C	ENSP00000242839.4:p.Ile967Thr
ENST00000344297.8:c.2279T>C	ENSP00000342559.5:p.Ile760Thr
ENST00000400366.5:c.2567T>C	ENSP00000383217.3:p.Ile856Thr
ENST00000400370.8:c.1610T>C	ENSP00000383221.3:p.Ile537Thr
ENST00000418097.7:c.2866-2153T>C	ENSP00000393343.2:n.2866-2153T>C
ENST00000448424.6:c.2666T>C	ENSP00000416738.2:p.Ile889Thr
ENST00000466629.1:n.120T>C
ENST00000634296.1:c.861T>C
ENST00000634308.1:c.*1T>C	ENSP00000489234.1:n.*1T>C
ENST00000634620.1:n.3644T>C
ENST00000634810.1:n.2245T>C
ENST00000634844.1:c.2756T>C	ENSP00000489398.1:p.Ile919Thr
ENST00000635406.1:n.246T>C
NM_000053.3:c.2900T>C	NP_000044.2:p.Ile967Thr
NM_001005918.2:c.2279T>C	NP_001005918.1:p.Ile760Thr
NM_001243182.1:c.2567T>C	NP_001230111.1:p.Ile856Thr
XM_005266423.2:c.2804T>C	XP_005266480.1:p.Ile935Thr
XM_005266424.3:c.2804T>C	XP_005266481.1:p.Ile935Thr
XM_005266427.2:c.2666T>C	XP_005266484.1:p.Ile889Thr
XM_005266428.1:c.2648T>C	XP_005266485.1:p.Ile883Thr
XM_005266430.3:c.2900T>C	XP_005266487.1:p.Ile967Thr
XM_005266431.2:c.2864T>C	XP_005266488.1:p.Ile955Thr
XM_005266432.2:c.2414T>C	XP_005266489.1:p.Ile805Thr
XM_006719837.2:c.2804T>C	XP_006719900.1:p.Ile935Thr
XM_006719838.1:c.716T>C	XP_006719901.1:p.Ile239Thr
XM_006719839.1:c.716T>C	XP_006719902.1:p.Ile239Thr
XM_011535117.1:c.2804T>C	XP_011533419.1:p.Ile935Thr
XM_011535118.1:c.2765T>C	XP_011533420.1:p.Ile922Thr
XM_011535119.1:c.2900T>C	XP_011533421.1:p.Ile967Thr
XM_011535120.1:c.2486T>C	XP_011533422.1:p.Ile829Thr
XM_011535121.1:c.2730+3563T>C	XP_011533423.1:n.2730+3563T>C
XM_011535122.1:c.1568T>C	XP_011533424.1:p.Ile523Thr
XR_941601.1:n.3119T>C
XR_941602.1:n.3119T>C
XR_941603.1:n.3119T>C
XR_941604.1:n.3119T>C
NM_001330578.1:c.2666T>C	NP_001317507.1:p.Ile889Thr
NM_001330579.1:c.2648T>C	NP_001317508.1:p.Ile883Thr
XM_005266424.4:c.2804T>C	XP_005266481.1:p.Ile935Thr
XM_005266430.4:c.2900T>C	XP_005266487.1:p.Ile967Thr
XM_005266431.4:c.2864T>C	XP_005266488.1:p.Ile955Thr
XM_006719837.3:c.2804T>C	XP_006719900.1:p.Ile935Thr
XM_011535117.3:c.2804T>C	XP_011533419.1:p.Ile935Thr
XM_017020627.1:c.2804T>C	XP_016876116.1:p.Ile935Thr
NM_000053.4:c.2900T>C MANE Select	NP_000044.2:p.Ile967Thr
NM_001005918.3:c.2279T>C	NP_001005918.1:p.Ile760Thr
NM_001330579.2:c.2648T>C	NP_001317508.1:p.Ile883Thr
NM_001243182.2:c.2567T>C	NP_001230111.1:p.Ile856Thr
NM_001330578.2:c.2666T>C	NP_001317507.1:p.Ile889Thr