Canonical Allele Identifier: CA388032190

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 551862
• ClinVar RCV Id: RCV000667021
• dbSNP Id: rs1555287372
• gnomAD v4: 13-51946364-C-A
• MyVariant Identifiers: chr13:g.52520500C>A (hg19) ; chr13:g.51946364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946364C>A , CM000675.2:g.51946364C>A	GRCh38
NC_000013.10:g.52520500C>A , CM000675.1:g.52520500C>A	GRCh37
NC_000013.9:g.51418501C>A	NCBI36
NG_008806.1:g.70131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*813G>T	ENSP00000489512.2:n.*813G>T
ENST00000673864.2:c.*1724G>T	ENSP00000501045.2:n.*1724G>T
ENST00000674147.2:c.2359G>T	ENSP00000500964.2:p.Ala787Ser
ENST00000242839.10:c.2980G>T MANE Select	ENSP00000242839.5:p.Ala994Ser
ENST00000344297.9:c.2359G>T	ENSP00000342559.5:p.Ala787Ser
ENST00000400366.6:c.2647G>T	ENSP00000383217.3:p.Ala883Ser
ENST00000448424.7:c.2728G>T	ENSP00000416738.3:p.Ala910Ser
ENST00000673772.1:c.2746G>T	ENSP00000501168.1:p.Ala916Ser
ENST00000673867.1:n.1127G>T
ENST00000674126.1:n.3343G>T
ENST00000674147.1:c.1915G>T	ENSP00000500964.1:p.Ala639Ser
ENST00000242839.8:c.2980G>T	ENSP00000242839.4:p.Ala994Ser
ENST00000344297.8:c.2359G>T	ENSP00000342559.5:p.Ala787Ser
ENST00000400366.5:c.2647G>T	ENSP00000383217.3:p.Ala883Ser
ENST00000400370.8:c.1690G>T	ENSP00000383221.3:p.Ala564Ser
ENST00000418097.7:c.2866-2073G>T	ENSP00000393343.2:n.2866-2073G>T
ENST00000448424.6:c.2746G>T	ENSP00000416738.2:p.Ala916Ser
ENST00000466629.1:n.200G>T
ENST00000634296.1:c.941G>T
ENST00000634308.1:c.*81G>T	ENSP00000489234.1:n.*81G>T
ENST00000634620.1:n.3724G>T
ENST00000634810.1:n.2325G>T
ENST00000634844.1:c.2836G>T	ENSP00000489398.1:p.Ala946Ser
ENST00000635406.1:n.326G>T
NM_000053.3:c.2980G>T	NP_000044.2:p.Ala994Ser
NM_001005918.2:c.2359G>T	NP_001005918.1:p.Ala787Ser
NM_001243182.1:c.2647G>T	NP_001230111.1:p.Ala883Ser
XM_005266423.2:c.2884G>T	XP_005266480.1:p.Ala962Ser
XM_005266424.3:c.2884G>T	XP_005266481.1:p.Ala962Ser
XM_005266427.2:c.2746G>T	XP_005266484.1:p.Ala916Ser
XM_005266428.1:c.2728G>T	XP_005266485.1:p.Ala910Ser
XM_005266430.3:c.2980G>T	XP_005266487.1:p.Ala994Ser
XM_005266431.2:c.2944G>T	XP_005266488.1:p.Ala982Ser
XM_005266432.2:c.2494G>T	XP_005266489.1:p.Ala832Ser
XM_006719837.2:c.2884G>T	XP_006719900.1:p.Ala962Ser
XM_006719838.1:c.796G>T	XP_006719901.1:p.Ala266Ser
XM_006719839.1:c.796G>T	XP_006719902.1:p.Ala266Ser
XM_011535117.1:c.2884G>T	XP_011533419.1:p.Ala962Ser
XM_011535118.1:c.2845G>T	XP_011533420.1:p.Ala949Ser
XM_011535119.1:c.2980G>T	XP_011533421.1:p.Ala994Ser
XM_011535120.1:c.2566G>T	XP_011533422.1:p.Ala856Ser
XM_011535121.1:c.2730+3643G>T	XP_011533423.1:n.2730+3643G>T
XM_011535122.1:c.1648G>T	XP_011533424.1:p.Ala550Ser
XR_941601.1:n.3199G>T
XR_941602.1:n.3199G>T
XR_941603.1:n.3199G>T
XR_941604.1:n.3199G>T
NM_001330578.1:c.2746G>T	NP_001317507.1:p.Ala916Ser
NM_001330579.1:c.2728G>T	NP_001317508.1:p.Ala910Ser
XM_005266424.4:c.2884G>T	XP_005266481.1:p.Ala962Ser
XM_005266430.4:c.2980G>T	XP_005266487.1:p.Ala994Ser
XM_005266431.4:c.2944G>T	XP_005266488.1:p.Ala982Ser
XM_006719837.3:c.2884G>T	XP_006719900.1:p.Ala962Ser
XM_011535117.3:c.2884G>T	XP_011533419.1:p.Ala962Ser
XM_017020627.1:c.2884G>T	XP_016876116.1:p.Ala962Ser
NM_000053.4:c.2980G>T MANE Select	NP_000044.2:p.Ala994Ser
NM_001005918.3:c.2359G>T	NP_001005918.1:p.Ala787Ser
NM_001330579.2:c.2728G>T	NP_001317508.1:p.Ala910Ser
NM_001243182.2:c.2647G>T	NP_001230111.1:p.Ala883Ser
NM_001330578.2:c.2746G>T	NP_001317507.1:p.Ala916Ser