Canonical Allele Identifier: CA388032352

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946408-A-T
• MyVariant Identifiers: chr13:g.52520544A>T (hg19) ; chr13:g.51946408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946408A>T , CM000675.2:g.51946408A>T	GRCh38
NC_000013.10:g.52520544A>T , CM000675.1:g.52520544A>T	GRCh37
NC_000013.9:g.51418545A>T	NCBI36
NG_008806.1:g.70087T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*769T>A	ENSP00000489512.2:n.*769T>A
ENST00000673864.2:c.*1680T>A	ENSP00000501045.2:n.*1680T>A
ENST00000674147.2:c.2315T>A	ENSP00000500964.2:p.Leu772Gln
ENST00000242839.10:c.2936T>A MANE Select	ENSP00000242839.5:p.Leu979Gln
ENST00000344297.9:c.2315T>A	ENSP00000342559.5:p.Leu772Gln
ENST00000400366.6:c.2603T>A	ENSP00000383217.3:p.Leu868Gln
ENST00000448424.7:c.2684T>A	ENSP00000416738.3:p.Leu895Gln
ENST00000673772.1:c.2702T>A	ENSP00000501168.1:p.Leu901Gln
ENST00000673867.1:n.1083T>A
ENST00000674126.1:n.3299T>A
ENST00000674147.1:c.1871T>A	ENSP00000500964.1:p.Leu624Gln
ENST00000242839.8:c.2936T>A	ENSP00000242839.4:p.Leu979Gln
ENST00000344297.8:c.2315T>A	ENSP00000342559.5:p.Leu772Gln
ENST00000400366.5:c.2603T>A	ENSP00000383217.3:p.Leu868Gln
ENST00000400370.8:c.1646T>A	ENSP00000383221.3:p.Leu549Gln
ENST00000418097.7:c.2866-2117T>A	ENSP00000393343.2:n.2866-2117T>A
ENST00000448424.6:c.2702T>A	ENSP00000416738.2:p.Leu901Gln
ENST00000466629.1:n.156T>A
ENST00000634296.1:c.897T>A
ENST00000634308.1:c.*37T>A	ENSP00000489234.1:n.*37T>A
ENST00000634620.1:n.3680T>A
ENST00000634810.1:n.2281T>A
ENST00000634844.1:c.2792T>A	ENSP00000489398.1:p.Leu931Gln
ENST00000635406.1:n.282T>A
NM_000053.3:c.2936T>A	NP_000044.2:p.Leu979Gln
NM_001005918.2:c.2315T>A	NP_001005918.1:p.Leu772Gln
NM_001243182.1:c.2603T>A	NP_001230111.1:p.Leu868Gln
XM_005266423.2:c.2840T>A	XP_005266480.1:p.Leu947Gln
XM_005266424.3:c.2840T>A	XP_005266481.1:p.Leu947Gln
XM_005266427.2:c.2702T>A	XP_005266484.1:p.Leu901Gln
XM_005266428.1:c.2684T>A	XP_005266485.1:p.Leu895Gln
XM_005266430.3:c.2936T>A	XP_005266487.1:p.Leu979Gln
XM_005266431.2:c.2900T>A	XP_005266488.1:p.Leu967Gln
XM_005266432.2:c.2450T>A	XP_005266489.1:p.Leu817Gln
XM_006719837.2:c.2840T>A	XP_006719900.1:p.Leu947Gln
XM_006719838.1:c.752T>A	XP_006719901.1:p.Leu251Gln
XM_006719839.1:c.752T>A	XP_006719902.1:p.Leu251Gln
XM_011535117.1:c.2840T>A	XP_011533419.1:p.Leu947Gln
XM_011535118.1:c.2801T>A	XP_011533420.1:p.Leu934Gln
XM_011535119.1:c.2936T>A	XP_011533421.1:p.Leu979Gln
XM_011535120.1:c.2522T>A	XP_011533422.1:p.Leu841Gln
XM_011535121.1:c.2730+3599T>A	XP_011533423.1:n.2730+3599T>A
XM_011535122.1:c.1604T>A	XP_011533424.1:p.Leu535Gln
XR_941601.1:n.3155T>A
XR_941602.1:n.3155T>A
XR_941603.1:n.3155T>A
XR_941604.1:n.3155T>A
NM_001330578.1:c.2702T>A	NP_001317507.1:p.Leu901Gln
NM_001330579.1:c.2684T>A	NP_001317508.1:p.Leu895Gln
XM_005266424.4:c.2840T>A	XP_005266481.1:p.Leu947Gln
XM_005266430.4:c.2936T>A	XP_005266487.1:p.Leu979Gln
XM_005266431.4:c.2900T>A	XP_005266488.1:p.Leu967Gln
XM_006719837.3:c.2840T>A	XP_006719900.1:p.Leu947Gln
XM_011535117.3:c.2840T>A	XP_011533419.1:p.Leu947Gln
XM_017020627.1:c.2840T>A	XP_016876116.1:p.Leu947Gln
NM_000053.4:c.2936T>A MANE Select	NP_000044.2:p.Leu979Gln
NM_001005918.3:c.2315T>A	NP_001005918.1:p.Leu772Gln
NM_001330579.2:c.2684T>A	NP_001317508.1:p.Leu895Gln
NM_001243182.2:c.2603T>A	NP_001230111.1:p.Leu868Gln
NM_001330578.2:c.2702T>A	NP_001317507.1:p.Leu901Gln