Canonical Allele Identifier: CA388034632

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52524234T>A (hg19) ; chr13:g.51950098T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950098T>A , CM000675.2:g.51950098T>A	GRCh38
NC_000013.10:g.52524234T>A , CM000675.1:g.52524234T>A	GRCh37
NC_000013.9:g.51422235T>A	NCBI36
NG_008806.1:g.66397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*472A>T	ENSP00000489512.2:n.*472A>T
ENST00000673864.2:c.*1383A>T	ENSP00000501045.2:n.*1383A>T
ENST00000674147.2:c.2153A>T	ENSP00000500964.2:p.His718Leu
ENST00000242839.10:c.2639A>T MANE Select	ENSP00000242839.5:p.His880Leu
ENST00000344297.9:c.2153A>T	ENSP00000342559.5:p.His718Leu
ENST00000400366.6:c.2306A>T	ENSP00000383217.3:p.His769Leu
ENST00000448424.7:c.2387A>T	ENSP00000416738.3:p.His796Leu
ENST00000673772.1:c.2405A>T	ENSP00000501168.1:p.His802Leu
ENST00000674147.1:c.1709A>T	ENSP00000500964.1:p.His570Leu
ENST00000242839.8:c.2639A>T	ENSP00000242839.4:p.His880Leu
ENST00000344297.8:c.2153A>T	ENSP00000342559.5:p.His718Leu
ENST00000400366.5:c.2306A>T	ENSP00000383217.3:p.His769Leu
ENST00000400370.8:c.1349A>T	ENSP00000383221.3:p.His450Leu
ENST00000418097.7:c.2639A>T	ENSP00000393343.2:p.His880Leu
ENST00000448424.6:c.2405A>T	ENSP00000416738.2:p.His802Leu
ENST00000634296.1:c.600A>T
ENST00000634308.1:c.2405A>T	ENSP00000489234.1:p.His802Leu
ENST00000634620.1:n.3437A>T
ENST00000634810.1:n.1984A>T
ENST00000634844.1:c.2495A>T	ENSP00000489398.1:p.His832Leu
ENST00000635406.1:n.212-3620A>T
NM_000053.3:c.2639A>T	NP_000044.2:p.His880Leu
NM_001005918.2:c.2153A>T	NP_001005918.1:p.His718Leu
NM_001243182.1:c.2306A>T	NP_001230111.1:p.His769Leu
XM_005266423.2:c.2543A>T	XP_005266480.1:p.His848Leu
XM_005266424.3:c.2543A>T	XP_005266481.1:p.His848Leu
XM_005266427.2:c.2405A>T	XP_005266484.1:p.His802Leu
XM_005266428.1:c.2387A>T	XP_005266485.1:p.His796Leu
XM_005266430.3:c.2639A>T	XP_005266487.1:p.His880Leu
XM_005266431.2:c.2603A>T	XP_005266488.1:p.His868Leu
XM_005266432.2:c.2153A>T	XP_005266489.1:p.His718Leu
XM_006719837.2:c.2543A>T	XP_006719900.1:p.His848Leu
XM_006719838.1:c.455A>T	XP_006719901.1:p.His152Leu
XM_006719839.1:c.455A>T	XP_006719902.1:p.His152Leu
XM_011535117.1:c.2543A>T	XP_011533419.1:p.His848Leu
XM_011535118.1:c.2639A>T	XP_011533420.1:p.His880Leu
XM_011535119.1:c.2639A>T	XP_011533421.1:p.His880Leu
XM_011535120.1:c.2225A>T	XP_011533422.1:p.His742Leu
XM_011535121.1:c.2639A>T	XP_011533423.1:p.His880Leu
XM_011535122.1:c.1307A>T	XP_011533424.1:p.His436Leu
XR_941601.1:n.2858A>T
XR_941602.1:n.2858A>T
XR_941603.1:n.2858A>T
XR_941604.1:n.2858A>T
NM_001330578.1:c.2405A>T	NP_001317507.1:p.His802Leu
NM_001330579.1:c.2387A>T	NP_001317508.1:p.His796Leu
XM_005266424.4:c.2543A>T	XP_005266481.1:p.His848Leu
XM_005266430.4:c.2639A>T	XP_005266487.1:p.His880Leu
XM_005266431.4:c.2603A>T	XP_005266488.1:p.His868Leu
XM_006719837.3:c.2543A>T	XP_006719900.1:p.His848Leu
XM_011535117.3:c.2543A>T	XP_011533419.1:p.His848Leu
XM_017020627.1:c.2543A>T	XP_016876116.1:p.His848Leu
NM_000053.4:c.2639A>T MANE Select	NP_000044.2:p.His880Leu
NM_001005918.3:c.2153A>T	NP_001005918.1:p.His718Leu
NM_001330579.2:c.2387A>T	NP_001317508.1:p.His796Leu
NM_001243182.2:c.2306A>T	NP_001230111.1:p.His769Leu
NM_001330578.2:c.2405A>T	NP_001317507.1:p.His802Leu