Canonical Allele Identifier: CA388032444

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520571A>T (hg19) ; chr13:g.51946435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946435A>T , CM000675.2:g.51946435A>T	GRCh38
NC_000013.10:g.52520571A>T , CM000675.1:g.52520571A>T	GRCh37
NC_000013.9:g.51418572A>T	NCBI36
NG_008806.1:g.70060T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*742T>A	ENSP00000489512.2:n.*742T>A
ENST00000673864.2:c.*1653T>A	ENSP00000501045.2:n.*1653T>A
ENST00000674147.2:c.2288T>A	ENSP00000500964.2:p.Phe763Tyr
ENST00000242839.10:c.2909T>A MANE Select	ENSP00000242839.5:p.Phe970Tyr
ENST00000344297.9:c.2288T>A	ENSP00000342559.5:p.Phe763Tyr
ENST00000400366.6:c.2576T>A	ENSP00000383217.3:p.Phe859Tyr
ENST00000448424.7:c.2657T>A	ENSP00000416738.3:p.Phe886Tyr
ENST00000673772.1:c.2675T>A	ENSP00000501168.1:p.Phe892Tyr
ENST00000673867.1:n.1056T>A
ENST00000674126.1:n.3272T>A
ENST00000674147.1:c.1844T>A	ENSP00000500964.1:p.Phe615Tyr
ENST00000242839.8:c.2909T>A	ENSP00000242839.4:p.Phe970Tyr
ENST00000344297.8:c.2288T>A	ENSP00000342559.5:p.Phe763Tyr
ENST00000400366.5:c.2576T>A	ENSP00000383217.3:p.Phe859Tyr
ENST00000400370.8:c.1619T>A	ENSP00000383221.3:p.Phe540Tyr
ENST00000418097.7:c.2866-2144T>A	ENSP00000393343.2:n.2866-2144T>A
ENST00000448424.6:c.2675T>A	ENSP00000416738.2:p.Phe892Tyr
ENST00000466629.1:n.129T>A
ENST00000634296.1:c.870T>A
ENST00000634308.1:c.*10T>A	ENSP00000489234.1:n.*10T>A
ENST00000634620.1:n.3653T>A
ENST00000634810.1:n.2254T>A
ENST00000634844.1:c.2765T>A	ENSP00000489398.1:p.Phe922Tyr
ENST00000635406.1:n.255T>A
NM_000053.3:c.2909T>A	NP_000044.2:p.Phe970Tyr
NM_001005918.2:c.2288T>A	NP_001005918.1:p.Phe763Tyr
NM_001243182.1:c.2576T>A	NP_001230111.1:p.Phe859Tyr
XM_005266423.2:c.2813T>A	XP_005266480.1:p.Phe938Tyr
XM_005266424.3:c.2813T>A	XP_005266481.1:p.Phe938Tyr
XM_005266427.2:c.2675T>A	XP_005266484.1:p.Phe892Tyr
XM_005266428.1:c.2657T>A	XP_005266485.1:p.Phe886Tyr
XM_005266430.3:c.2909T>A	XP_005266487.1:p.Phe970Tyr
XM_005266431.2:c.2873T>A	XP_005266488.1:p.Phe958Tyr
XM_005266432.2:c.2423T>A	XP_005266489.1:p.Phe808Tyr
XM_006719837.2:c.2813T>A	XP_006719900.1:p.Phe938Tyr
XM_006719838.1:c.725T>A	XP_006719901.1:p.Phe242Tyr
XM_006719839.1:c.725T>A	XP_006719902.1:p.Phe242Tyr
XM_011535117.1:c.2813T>A	XP_011533419.1:p.Phe938Tyr
XM_011535118.1:c.2774T>A	XP_011533420.1:p.Phe925Tyr
XM_011535119.1:c.2909T>A	XP_011533421.1:p.Phe970Tyr
XM_011535120.1:c.2495T>A	XP_011533422.1:p.Phe832Tyr
XM_011535121.1:c.2730+3572T>A	XP_011533423.1:n.2730+3572T>A
XM_011535122.1:c.1577T>A	XP_011533424.1:p.Phe526Tyr
XR_941601.1:n.3128T>A
XR_941602.1:n.3128T>A
XR_941603.1:n.3128T>A
XR_941604.1:n.3128T>A
NM_001330578.1:c.2675T>A	NP_001317507.1:p.Phe892Tyr
NM_001330579.1:c.2657T>A	NP_001317508.1:p.Phe886Tyr
XM_005266424.4:c.2813T>A	XP_005266481.1:p.Phe938Tyr
XM_005266430.4:c.2909T>A	XP_005266487.1:p.Phe970Tyr
XM_005266431.4:c.2873T>A	XP_005266488.1:p.Phe958Tyr
XM_006719837.3:c.2813T>A	XP_006719900.1:p.Phe938Tyr
XM_011535117.3:c.2813T>A	XP_011533419.1:p.Phe938Tyr
XM_017020627.1:c.2813T>A	XP_016876116.1:p.Phe938Tyr
NM_000053.4:c.2909T>A MANE Select	NP_000044.2:p.Phe970Tyr
NM_001005918.3:c.2288T>A	NP_001005918.1:p.Phe763Tyr
NM_001330579.2:c.2657T>A	NP_001317508.1:p.Phe886Tyr
NM_001243182.2:c.2576T>A	NP_001230111.1:p.Phe859Tyr
NM_001330578.2:c.2675T>A	NP_001317507.1:p.Phe892Tyr