Canonical Allele Identifier: CA388021804

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958367G>T , CM000675.2:g.51958367G>T	GRCh38
NC_000013.10:g.52532503G>T , CM000675.1:g.52532503G>T	GRCh37
NC_000013.9:g.51430504G>T	NCBI36
NG_008806.1:g.58128C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.2299C>A MANE Select	NP_000044.2:p.Pro767Thr
ENST00000242839.10:c.2299C>A MANE Select	ENSP00000242839.5:p.Pro767Thr
NM_000053.3:c.2299C>A	NP_000044.2:p.Pro767Thr
NM_001005918.2:c.1870-760C>A	NP_001005918.1:n.1870-760C>A
NM_001005918.3:c.1870-760C>A	NP_001005918.1:n.1870-760C>A
NM_001243182.1:c.1966C>A	NP_001230111.1:p.Pro656Thr
NM_001243182.2:c.1966C>A	NP_001230111.1:p.Pro656Thr
NM_001330578.1:c.2122-760C>A	NP_001317507.1:n.2122-760C>A
NM_001330578.2:c.2122-760C>A	NP_001317507.1:n.2122-760C>A
NM_001330579.1:c.2047C>A	NP_001317508.1:p.Pro683Thr
NM_001330579.2:c.2047C>A	NP_001317508.1:p.Pro683Thr
ENST00000242839.8:c.2299C>A	ENSP00000242839.4:p.Pro767Thr
ENST00000344297.8:c.1870-760C>A	ENSP00000342559.5:n.1870-760C>A
ENST00000344297.9:c.1870-760C>A	ENSP00000342559.5:n.1870-760C>A
ENST00000400366.5:c.1966C>A	ENSP00000383217.3:p.Pro656Thr
ENST00000400366.6:c.1966C>A	ENSP00000383217.3:p.Pro656Thr
ENST00000400370.8:c.1286-8206C>A	ENSP00000383221.3:n.1286-8206C>A
ENST00000418097.7:c.2299C>A	ENSP00000393343.2:p.Pro767Thr
ENST00000448424.6:c.2122-760C>A	ENSP00000416738.2:n.2122-760C>A
ENST00000448424.7:c.2047C>A	ENSP00000416738.3:p.Pro683Thr
ENST00000482841.6:n.1842C>A
ENST00000634296.1:c.260C>A
ENST00000634296.2:c.*132C>A	ENSP00000489512.2:n.*132C>A
ENST00000634308.1:c.2122-760C>A	ENSP00000489234.1:n.2122-760C>A
ENST00000634620.1:n.2394C>A
ENST00000634810.1:n.1644C>A
ENST00000634844.1:c.2155C>A	ENSP00000489398.1:p.Pro719Thr
ENST00000635406.1:n.212-11889C>A
ENST00000673772.1:c.2122-760C>A	ENSP00000501168.1:n.2122-760C>A
ENST00000673864.2:c.*1043C>A	ENSP00000501045.2:n.*1043C>A
ENST00000674147.1:c.1426-760C>A	ENSP00000500964.1:n.1426-760C>A
ENST00000674147.2:c.1870-760C>A	ENSP00000500964.2:n.1870-760C>A
XM_005266423.2:c.2203C>A	XP_005266480.1:p.Pro735Thr
XM_005266424.3:c.2203C>A	XP_005266481.1:p.Pro735Thr
XM_005266424.4:c.2203C>A	XP_005266481.1:p.Pro735Thr
XM_005266427.2:c.2122-760C>A	XP_005266484.1:n.2122-760C>A
XM_005266428.1:c.2047C>A	XP_005266485.1:p.Pro683Thr
XM_005266430.3:c.2299C>A	XP_005266487.1:p.Pro767Thr
XM_005266430.4:c.2299C>A	XP_005266487.1:p.Pro767Thr
XM_005266431.2:c.2263C>A	XP_005266488.1:p.Pro755Thr
XM_005266431.4:c.2263C>A	XP_005266488.1:p.Pro755Thr
XM_005266432.2:c.1870-760C>A	XP_005266489.1:n.1870-760C>A
XM_006719837.2:c.2203C>A	XP_006719900.1:p.Pro735Thr
XM_006719837.3:c.2203C>A	XP_006719900.1:p.Pro735Thr
XM_006719838.1:c.115C>A	XP_006719901.1:p.Pro39Thr
XM_006719839.1:c.115C>A	XP_006719902.1:p.Pro39Thr
XM_011535117.1:c.2203C>A	XP_011533419.1:p.Pro735Thr
XM_011535117.3:c.2203C>A	XP_011533419.1:p.Pro735Thr
XM_011535118.1:c.2299C>A	XP_011533420.1:p.Pro767Thr
XM_011535119.1:c.2299C>A	XP_011533421.1:p.Pro767Thr
XM_011535120.1:c.1885C>A	XP_011533422.1:p.Pro629Thr
XM_011535121.1:c.2299C>A	XP_011533423.1:p.Pro767Thr
XM_011535122.1:c.967C>A	XP_011533424.1:p.Pro323Thr
XM_017020627.1:c.2203C>A	XP_016876116.1:p.Pro735Thr
XR_941601.1:n.2518C>A
XR_941602.1:n.2518C>A
XR_941603.1:n.2518C>A
XR_941604.1:n.2518C>A