Canonical Allele Identifier: CA388032350

Gene: ATP7B

Linked Data

• dbSNP Id: rs2139059151
• gnomAD v4: 13-51946408-A-G
• MyVariant Identifiers: chr13:g.52520544A>G (hg19) ; chr13:g.51946408A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*769T>C	ENSP00000489512.2:n.*769T>C
ENST00000673864.2:c.*1680T>C	ENSP00000501045.2:n.*1680T>C
ENST00000674147.2:c.2315T>C	ENSP00000500964.2:p.Leu772Pro
ENST00000242839.10:c.2936T>C MANE Select	ENSP00000242839.5:p.Leu979Pro
ENST00000344297.9:c.2315T>C	ENSP00000342559.5:p.Leu772Pro
ENST00000400366.6:c.2603T>C	ENSP00000383217.3:p.Leu868Pro
ENST00000448424.7:c.2684T>C	ENSP00000416738.3:p.Leu895Pro
ENST00000673772.1:c.2702T>C	ENSP00000501168.1:p.Leu901Pro
ENST00000673867.1:n.1083T>C
ENST00000674126.1:n.3299T>C
ENST00000674147.1:c.1871T>C	ENSP00000500964.1:p.Leu624Pro
ENST00000242839.8:c.2936T>C	ENSP00000242839.4:p.Leu979Pro
ENST00000344297.8:c.2315T>C	ENSP00000342559.5:p.Leu772Pro
ENST00000400366.5:c.2603T>C	ENSP00000383217.3:p.Leu868Pro
ENST00000400370.8:c.1646T>C	ENSP00000383221.3:p.Leu549Pro
ENST00000418097.7:c.2866-2117T>C	ENSP00000393343.2:n.2866-2117T>C
ENST00000448424.6:c.2702T>C	ENSP00000416738.2:p.Leu901Pro
ENST00000466629.1:n.156T>C
ENST00000634296.1:c.897T>C
ENST00000634308.1:c.*37T>C	ENSP00000489234.1:n.*37T>C
ENST00000634620.1:n.3680T>C
ENST00000634810.1:n.2281T>C
ENST00000634844.1:c.2792T>C	ENSP00000489398.1:p.Leu931Pro
ENST00000635406.1:n.282T>C
NM_000053.3:c.2936T>C	NP_000044.2:p.Leu979Pro
NM_001005918.2:c.2315T>C	NP_001005918.1:p.Leu772Pro
NM_001243182.1:c.2603T>C	NP_001230111.1:p.Leu868Pro
XM_005266423.2:c.2840T>C	XP_005266480.1:p.Leu947Pro
XM_005266424.3:c.2840T>C	XP_005266481.1:p.Leu947Pro
XM_005266427.2:c.2702T>C	XP_005266484.1:p.Leu901Pro
XM_005266428.1:c.2684T>C	XP_005266485.1:p.Leu895Pro
XM_005266430.3:c.2936T>C	XP_005266487.1:p.Leu979Pro
XM_005266431.2:c.2900T>C	XP_005266488.1:p.Leu967Pro
XM_005266432.2:c.2450T>C	XP_005266489.1:p.Leu817Pro
XM_006719837.2:c.2840T>C	XP_006719900.1:p.Leu947Pro
XM_006719838.1:c.752T>C	XP_006719901.1:p.Leu251Pro
XM_006719839.1:c.752T>C	XP_006719902.1:p.Leu251Pro
XM_011535117.1:c.2840T>C	XP_011533419.1:p.Leu947Pro
XM_011535118.1:c.2801T>C	XP_011533420.1:p.Leu934Pro
XM_011535119.1:c.2936T>C	XP_011533421.1:p.Leu979Pro
XM_011535120.1:c.2522T>C	XP_011533422.1:p.Leu841Pro
XM_011535121.1:c.2730+3599T>C	XP_011533423.1:n.2730+3599T>C
XM_011535122.1:c.1604T>C	XP_011533424.1:p.Leu535Pro
XR_941601.1:n.3155T>C
XR_941602.1:n.3155T>C
XR_941603.1:n.3155T>C
XR_941604.1:n.3155T>C
NM_001330578.1:c.2702T>C	NP_001317507.1:p.Leu901Pro
NM_001330579.1:c.2684T>C	NP_001317508.1:p.Leu895Pro
XM_005266424.4:c.2840T>C	XP_005266481.1:p.Leu947Pro
XM_005266430.4:c.2936T>C	XP_005266487.1:p.Leu979Pro
XM_005266431.4:c.2900T>C	XP_005266488.1:p.Leu967Pro
XM_006719837.3:c.2840T>C	XP_006719900.1:p.Leu947Pro
XM_011535117.3:c.2840T>C	XP_011533419.1:p.Leu947Pro
XM_017020627.1:c.2840T>C	XP_016876116.1:p.Leu947Pro
NM_000053.4:c.2936T>C MANE Select	NP_000044.2:p.Leu979Pro
NM_001005918.3:c.2315T>C	NP_001005918.1:p.Leu772Pro
NM_001330579.2:c.2684T>C	NP_001317508.1:p.Leu895Pro
NM_001243182.2:c.2603T>C	NP_001230111.1:p.Leu868Pro
NM_001330578.2:c.2702T>C	NP_001317507.1:p.Leu901Pro