Canonical Allele Identifier: CA388032130

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946355-C-G
• MyVariant Identifiers: chr13:g.52520491C>G (hg19) ; chr13:g.51946355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946355C>G , CM000675.2:g.51946355C>G	GRCh38
NC_000013.10:g.52520491C>G , CM000675.1:g.52520491C>G	GRCh37
NC_000013.9:g.51418492C>G	NCBI36
NG_008806.1:g.70140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*822G>C	ENSP00000489512.2:n.*822G>C
ENST00000673864.2:c.*1733G>C	ENSP00000501045.2:n.*1733G>C
ENST00000674147.2:c.2368G>C	ENSP00000500964.2:p.Val790Leu
ENST00000242839.10:c.2989G>C MANE Select	ENSP00000242839.5:p.Val997Leu
ENST00000344297.9:c.2368G>C	ENSP00000342559.5:p.Val790Leu
ENST00000400366.6:c.2656G>C	ENSP00000383217.3:p.Val886Leu
ENST00000448424.7:c.2737G>C	ENSP00000416738.3:p.Val913Leu
ENST00000673772.1:c.2755G>C	ENSP00000501168.1:p.Val919Leu
ENST00000673867.1:n.1136G>C
ENST00000674126.1:n.3352G>C
ENST00000674147.1:c.1924G>C	ENSP00000500964.1:p.Val642Leu
ENST00000242839.8:c.2989G>C	ENSP00000242839.4:p.Val997Leu
ENST00000344297.8:c.2368G>C	ENSP00000342559.5:p.Val790Leu
ENST00000400366.5:c.2656G>C	ENSP00000383217.3:p.Val886Leu
ENST00000400370.8:c.1699G>C	ENSP00000383221.3:p.Val567Leu
ENST00000418097.7:c.2866-2064G>C	ENSP00000393343.2:n.2866-2064G>C
ENST00000448424.6:c.2755G>C	ENSP00000416738.2:p.Val919Leu
ENST00000466629.1:n.209G>C
ENST00000634296.1:c.950G>C
ENST00000634308.1:c.*90G>C	ENSP00000489234.1:n.*90G>C
ENST00000634620.1:n.3733G>C
ENST00000634810.1:n.2334G>C
ENST00000634844.1:c.2845G>C	ENSP00000489398.1:p.Val949Leu
ENST00000635406.1:n.335G>C
NM_000053.3:c.2989G>C	NP_000044.2:p.Val997Leu
NM_001005918.2:c.2368G>C	NP_001005918.1:p.Val790Leu
NM_001243182.1:c.2656G>C	NP_001230111.1:p.Val886Leu
XM_005266423.2:c.2893G>C	XP_005266480.1:p.Val965Leu
XM_005266424.3:c.2893G>C	XP_005266481.1:p.Val965Leu
XM_005266427.2:c.2755G>C	XP_005266484.1:p.Val919Leu
XM_005266428.1:c.2737G>C	XP_005266485.1:p.Val913Leu
XM_005266430.3:c.2989G>C	XP_005266487.1:p.Val997Leu
XM_005266431.2:c.2953G>C	XP_005266488.1:p.Val985Leu
XM_005266432.2:c.2503G>C	XP_005266489.1:p.Val835Leu
XM_006719837.2:c.2893G>C	XP_006719900.1:p.Val965Leu
XM_006719838.1:c.805G>C	XP_006719901.1:p.Val269Leu
XM_006719839.1:c.805G>C	XP_006719902.1:p.Val269Leu
XM_011535117.1:c.2893G>C	XP_011533419.1:p.Val965Leu
XM_011535118.1:c.2854G>C	XP_011533420.1:p.Val952Leu
XM_011535119.1:c.2989G>C	XP_011533421.1:p.Val997Leu
XM_011535120.1:c.2575G>C	XP_011533422.1:p.Val859Leu
XM_011535121.1:c.2730+3652G>C	XP_011533423.1:n.2730+3652G>C
XM_011535122.1:c.1657G>C	XP_011533424.1:p.Val553Leu
XR_941601.1:n.3208G>C
XR_941602.1:n.3208G>C
XR_941603.1:n.3208G>C
XR_941604.1:n.3208G>C
NM_001330578.1:c.2755G>C	NP_001317507.1:p.Val919Leu
NM_001330579.1:c.2737G>C	NP_001317508.1:p.Val913Leu
XM_005266424.4:c.2893G>C	XP_005266481.1:p.Val965Leu
XM_005266430.4:c.2989G>C	XP_005266487.1:p.Val997Leu
XM_005266431.4:c.2953G>C	XP_005266488.1:p.Val985Leu
XM_006719837.3:c.2893G>C	XP_006719900.1:p.Val965Leu
XM_011535117.3:c.2893G>C	XP_011533419.1:p.Val965Leu
XM_017020627.1:c.2893G>C	XP_016876116.1:p.Val965Leu
NM_000053.4:c.2989G>C MANE Select	NP_000044.2:p.Val997Leu
NM_001005918.3:c.2368G>C	NP_001005918.1:p.Val790Leu
NM_001330579.2:c.2737G>C	NP_001317508.1:p.Val913Leu
NM_001243182.2:c.2656G>C	NP_001230111.1:p.Val886Leu
NM_001330578.2:c.2755G>C	NP_001317507.1:p.Val919Leu