Canonical Allele Identifier: CA388033478

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51949706-C-A
• MyVariant Identifiers: chr13:g.52523842C>A (hg19) ; chr13:g.51949706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949706C>A , CM000675.2:g.51949706C>A	GRCh38
NC_000013.10:g.52523842C>A , CM000675.1:g.52523842C>A	GRCh37
NC_000013.9:g.51421843C>A	NCBI36
NG_008806.1:g.66789G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*654G>T	ENSP00000489512.2:n.*654G>T
ENST00000673864.2:c.*1565G>T	ENSP00000501045.2:n.*1565G>T
ENST00000674147.2:c.2244+301G>T	ENSP00000500964.2:n.2244+301G>T
ENST00000242839.10:c.2821G>T MANE Select	ENSP00000242839.5:p.Val941Leu
ENST00000344297.9:c.2244+301G>T	ENSP00000342559.5:n.2244+301G>T
ENST00000400366.6:c.2488G>T	ENSP00000383217.3:p.Val830Leu
ENST00000448424.7:c.2569G>T	ENSP00000416738.3:p.Val857Leu
ENST00000673772.1:c.2587G>T	ENSP00000501168.1:p.Val863Leu
ENST00000674126.1:n.1G>T
ENST00000674147.1:c.1800+301G>T	ENSP00000500964.1:n.1800+301G>T
ENST00000242839.8:c.2821G>T	ENSP00000242839.4:p.Val941Leu
ENST00000344297.8:c.2244+301G>T	ENSP00000342559.5:n.2244+301G>T
ENST00000400366.5:c.2488G>T	ENSP00000383217.3:p.Val830Leu
ENST00000400370.8:c.1531G>T	ENSP00000383221.3:p.Val511Leu
ENST00000418097.7:c.2821G>T	ENSP00000393343.2:p.Val941Leu
ENST00000448424.6:c.2587G>T	ENSP00000416738.2:p.Val863Leu
ENST00000634296.1:c.782G>T
ENST00000634308.1:c.2587G>T	ENSP00000489234.1:p.Val863Leu
ENST00000634620.1:n.3609+10G>T
ENST00000634810.1:n.2166G>T
ENST00000634844.1:c.2677G>T	ENSP00000489398.1:p.Val893Leu
ENST00000635406.1:n.212-3228G>T
NM_000053.3:c.2821G>T	NP_000044.2:p.Val941Leu
NM_001005918.2:c.2244+301G>T	NP_001005918.1:n.2244+301G>T
NM_001243182.1:c.2488G>T	NP_001230111.1:p.Val830Leu
XM_005266423.2:c.2725G>T	XP_005266480.1:p.Val909Leu
XM_005266424.3:c.2725G>T	XP_005266481.1:p.Val909Leu
XM_005266427.2:c.2587G>T	XP_005266484.1:p.Val863Leu
XM_005266428.1:c.2569G>T	XP_005266485.1:p.Val857Leu
XM_005266430.3:c.2821G>T	XP_005266487.1:p.Val941Leu
XM_005266431.2:c.2785G>T	XP_005266488.1:p.Val929Leu
XM_005266432.2:c.2335G>T	XP_005266489.1:p.Val779Leu
XM_006719837.2:c.2725G>T	XP_006719900.1:p.Val909Leu
XM_006719838.1:c.637G>T	XP_006719901.1:p.Val213Leu
XM_006719839.1:c.637G>T	XP_006719902.1:p.Val213Leu
XM_011535117.1:c.2725G>T	XP_011533419.1:p.Val909Leu
XM_011535118.1:c.2730+301G>T	XP_011533420.1:n.2730+301G>T
XM_011535119.1:c.2821G>T	XP_011533421.1:p.Val941Leu
XM_011535120.1:c.2407G>T	XP_011533422.1:p.Val803Leu
XM_011535121.1:c.2730+301G>T	XP_011533423.1:n.2730+301G>T
XM_011535122.1:c.1489G>T	XP_011533424.1:p.Val497Leu
XR_941601.1:n.3040G>T
XR_941602.1:n.3040G>T
XR_941603.1:n.3040G>T
XR_941604.1:n.3040G>T
NM_001330578.1:c.2587G>T	NP_001317507.1:p.Val863Leu
NM_001330579.1:c.2569G>T	NP_001317508.1:p.Val857Leu
XM_005266424.4:c.2725G>T	XP_005266481.1:p.Val909Leu
XM_005266430.4:c.2821G>T	XP_005266487.1:p.Val941Leu
XM_005266431.4:c.2785G>T	XP_005266488.1:p.Val929Leu
XM_006719837.3:c.2725G>T	XP_006719900.1:p.Val909Leu
XM_011535117.3:c.2725G>T	XP_011533419.1:p.Val909Leu
XM_017020627.1:c.2725G>T	XP_016876116.1:p.Val909Leu
NM_000053.4:c.2821G>T MANE Select	NP_000044.2:p.Val941Leu
NM_001005918.3:c.2244+301G>T	NP_001005918.1:n.2244+301G>T
NM_001330579.2:c.2569G>T	NP_001317508.1:p.Val857Leu
NM_001243182.2:c.2488G>T	NP_001230111.1:p.Val830Leu
NM_001330578.2:c.2587G>T	NP_001317507.1:p.Val863Leu