Canonical Allele Identifier: CA388032449

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520572A>T (hg19) ; chr13:g.51946436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946436A>T , CM000675.2:g.51946436A>T	GRCh38
NC_000013.10:g.52520572A>T , CM000675.1:g.52520572A>T	GRCh37
NC_000013.9:g.51418573A>T	NCBI36
NG_008806.1:g.70059T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*741T>A	ENSP00000489512.2:n.*741T>A
ENST00000673864.2:c.*1652T>A	ENSP00000501045.2:n.*1652T>A
ENST00000674147.2:c.2287T>A	ENSP00000500964.2:p.Phe763Ile
ENST00000242839.10:c.2908T>A MANE Select	ENSP00000242839.5:p.Phe970Ile
ENST00000344297.9:c.2287T>A	ENSP00000342559.5:p.Phe763Ile
ENST00000400366.6:c.2575T>A	ENSP00000383217.3:p.Phe859Ile
ENST00000448424.7:c.2656T>A	ENSP00000416738.3:p.Phe886Ile
ENST00000673772.1:c.2674T>A	ENSP00000501168.1:p.Phe892Ile
ENST00000673867.1:n.1055T>A
ENST00000674126.1:n.3271T>A
ENST00000674147.1:c.1843T>A	ENSP00000500964.1:p.Phe615Ile
ENST00000242839.8:c.2908T>A	ENSP00000242839.4:p.Phe970Ile
ENST00000344297.8:c.2287T>A	ENSP00000342559.5:p.Phe763Ile
ENST00000400366.5:c.2575T>A	ENSP00000383217.3:p.Phe859Ile
ENST00000400370.8:c.1618T>A	ENSP00000383221.3:p.Phe540Ile
ENST00000418097.7:c.2866-2145T>A	ENSP00000393343.2:n.2866-2145T>A
ENST00000448424.6:c.2674T>A	ENSP00000416738.2:p.Phe892Ile
ENST00000466629.1:n.128T>A
ENST00000634296.1:c.869T>A
ENST00000634308.1:c.*9T>A	ENSP00000489234.1:n.*9T>A
ENST00000634620.1:n.3652T>A
ENST00000634810.1:n.2253T>A
ENST00000634844.1:c.2764T>A	ENSP00000489398.1:p.Phe922Ile
ENST00000635406.1:n.254T>A
NM_000053.3:c.2908T>A	NP_000044.2:p.Phe970Ile
NM_001005918.2:c.2287T>A	NP_001005918.1:p.Phe763Ile
NM_001243182.1:c.2575T>A	NP_001230111.1:p.Phe859Ile
XM_005266423.2:c.2812T>A	XP_005266480.1:p.Phe938Ile
XM_005266424.3:c.2812T>A	XP_005266481.1:p.Phe938Ile
XM_005266427.2:c.2674T>A	XP_005266484.1:p.Phe892Ile
XM_005266428.1:c.2656T>A	XP_005266485.1:p.Phe886Ile
XM_005266430.3:c.2908T>A	XP_005266487.1:p.Phe970Ile
XM_005266431.2:c.2872T>A	XP_005266488.1:p.Phe958Ile
XM_005266432.2:c.2422T>A	XP_005266489.1:p.Phe808Ile
XM_006719837.2:c.2812T>A	XP_006719900.1:p.Phe938Ile
XM_006719838.1:c.724T>A	XP_006719901.1:p.Phe242Ile
XM_006719839.1:c.724T>A	XP_006719902.1:p.Phe242Ile
XM_011535117.1:c.2812T>A	XP_011533419.1:p.Phe938Ile
XM_011535118.1:c.2773T>A	XP_011533420.1:p.Phe925Ile
XM_011535119.1:c.2908T>A	XP_011533421.1:p.Phe970Ile
XM_011535120.1:c.2494T>A	XP_011533422.1:p.Phe832Ile
XM_011535121.1:c.2730+3571T>A	XP_011533423.1:n.2730+3571T>A
XM_011535122.1:c.1576T>A	XP_011533424.1:p.Phe526Ile
XR_941601.1:n.3127T>A
XR_941602.1:n.3127T>A
XR_941603.1:n.3127T>A
XR_941604.1:n.3127T>A
NM_001330578.1:c.2674T>A	NP_001317507.1:p.Phe892Ile
NM_001330579.1:c.2656T>A	NP_001317508.1:p.Phe886Ile
XM_005266424.4:c.2812T>A	XP_005266481.1:p.Phe938Ile
XM_005266430.4:c.2908T>A	XP_005266487.1:p.Phe970Ile
XM_005266431.4:c.2872T>A	XP_005266488.1:p.Phe958Ile
XM_006719837.3:c.2812T>A	XP_006719900.1:p.Phe938Ile
XM_011535117.3:c.2812T>A	XP_011533419.1:p.Phe938Ile
XM_017020627.1:c.2812T>A	XP_016876116.1:p.Phe938Ile
NM_000053.4:c.2908T>A MANE Select	NP_000044.2:p.Phe970Ile
NM_001005918.3:c.2287T>A	NP_001005918.1:p.Phe763Ile
NM_001330579.2:c.2656T>A	NP_001317508.1:p.Phe886Ile
NM_001243182.2:c.2575T>A	NP_001230111.1:p.Phe859Ile
NM_001330578.2:c.2674T>A	NP_001317507.1:p.Phe892Ile