Canonical Allele Identifier: CA388032257

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946381-C-G
• MyVariant Identifiers: chr13:g.52520517C>G (hg19) ; chr13:g.51946381C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946381C>G , CM000675.2:g.51946381C>G	GRCh38
NC_000013.10:g.52520517C>G , CM000675.1:g.52520517C>G	GRCh37
NC_000013.9:g.51418518C>G	NCBI36
NG_008806.1:g.70114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*796G>C	ENSP00000489512.2:n.*796G>C
ENST00000673864.2:c.*1707G>C	ENSP00000501045.2:n.*1707G>C
ENST00000674147.2:c.2342G>C	ENSP00000500964.2:p.Gly781Ala
ENST00000242839.10:c.2963G>C MANE Select	ENSP00000242839.5:p.Gly988Ala
ENST00000344297.9:c.2342G>C	ENSP00000342559.5:p.Gly781Ala
ENST00000400366.6:c.2630G>C	ENSP00000383217.3:p.Gly877Ala
ENST00000448424.7:c.2711G>C	ENSP00000416738.3:p.Gly904Ala
ENST00000673772.1:c.2729G>C	ENSP00000501168.1:p.Gly910Ala
ENST00000673867.1:n.1110G>C
ENST00000674126.1:n.3326G>C
ENST00000674147.1:c.1898G>C	ENSP00000500964.1:p.Gly633Ala
ENST00000242839.8:c.2963G>C	ENSP00000242839.4:p.Gly988Ala
ENST00000344297.8:c.2342G>C	ENSP00000342559.5:p.Gly781Ala
ENST00000400366.5:c.2630G>C	ENSP00000383217.3:p.Gly877Ala
ENST00000400370.8:c.1673G>C	ENSP00000383221.3:p.Gly558Ala
ENST00000418097.7:c.2866-2090G>C	ENSP00000393343.2:n.2866-2090G>C
ENST00000448424.6:c.2729G>C	ENSP00000416738.2:p.Gly910Ala
ENST00000466629.1:n.183G>C
ENST00000634296.1:c.924G>C
ENST00000634308.1:c.*64G>C	ENSP00000489234.1:n.*64G>C
ENST00000634620.1:n.3707G>C
ENST00000634810.1:n.2308G>C
ENST00000634844.1:c.2819G>C	ENSP00000489398.1:p.Gly940Ala
ENST00000635406.1:n.309G>C
NM_000053.3:c.2963G>C	NP_000044.2:p.Gly988Ala
NM_001005918.2:c.2342G>C	NP_001005918.1:p.Gly781Ala
NM_001243182.1:c.2630G>C	NP_001230111.1:p.Gly877Ala
XM_005266423.2:c.2867G>C	XP_005266480.1:p.Gly956Ala
XM_005266424.3:c.2867G>C	XP_005266481.1:p.Gly956Ala
XM_005266427.2:c.2729G>C	XP_005266484.1:p.Gly910Ala
XM_005266428.1:c.2711G>C	XP_005266485.1:p.Gly904Ala
XM_005266430.3:c.2963G>C	XP_005266487.1:p.Gly988Ala
XM_005266431.2:c.2927G>C	XP_005266488.1:p.Gly976Ala
XM_005266432.2:c.2477G>C	XP_005266489.1:p.Gly826Ala
XM_006719837.2:c.2867G>C	XP_006719900.1:p.Gly956Ala
XM_006719838.1:c.779G>C	XP_006719901.1:p.Gly260Ala
XM_006719839.1:c.779G>C	XP_006719902.1:p.Gly260Ala
XM_011535117.1:c.2867G>C	XP_011533419.1:p.Gly956Ala
XM_011535118.1:c.2828G>C	XP_011533420.1:p.Gly943Ala
XM_011535119.1:c.2963G>C	XP_011533421.1:p.Gly988Ala
XM_011535120.1:c.2549G>C	XP_011533422.1:p.Gly850Ala
XM_011535121.1:c.2730+3626G>C	XP_011533423.1:n.2730+3626G>C
XM_011535122.1:c.1631G>C	XP_011533424.1:p.Gly544Ala
XR_941601.1:n.3182G>C
XR_941602.1:n.3182G>C
XR_941603.1:n.3182G>C
XR_941604.1:n.3182G>C
NM_001330578.1:c.2729G>C	NP_001317507.1:p.Gly910Ala
NM_001330579.1:c.2711G>C	NP_001317508.1:p.Gly904Ala
XM_005266424.4:c.2867G>C	XP_005266481.1:p.Gly956Ala
XM_005266430.4:c.2963G>C	XP_005266487.1:p.Gly988Ala
XM_005266431.4:c.2927G>C	XP_005266488.1:p.Gly976Ala
XM_006719837.3:c.2867G>C	XP_006719900.1:p.Gly956Ala
XM_011535117.3:c.2867G>C	XP_011533419.1:p.Gly956Ala
XM_017020627.1:c.2867G>C	XP_016876116.1:p.Gly956Ala
NM_000053.4:c.2963G>C MANE Select	NP_000044.2:p.Gly988Ala
NM_001005918.3:c.2342G>C	NP_001005918.1:p.Gly781Ala
NM_001330579.2:c.2711G>C	NP_001317508.1:p.Gly904Ala
NM_001243182.2:c.2630G>C	NP_001230111.1:p.Gly877Ala
NM_001330578.2:c.2729G>C	NP_001317507.1:p.Gly910Ala