Canonical Allele Identifier: CA483894726

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944220-C-G
• MyVariant Identifiers: chr13:g.52518356C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944220C>G , CM000675.2:g.51944220C>G	GRCh38
NC_000013.10:g.52518356C>G , CM000675.1:g.52518356C>G	GRCh37
NC_000013.9:g.51416357C>G	NCBI36
NG_008806.1:g.72275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1666G>C	ENSP00000489512.2:n.*894-1666G>C
ENST00000673864.2:c.*1876G>C	ENSP00000501045.2:n.*1876G>C
ENST00000674147.2:c.2511G>C	ENSP00000500964.2:p.Leu837=
ENST00000242839.10:c.3132G>C MANE Select	ENSP00000242839.5:p.Leu1044=
ENST00000344297.9:c.2511G>C	ENSP00000342559.5:p.Leu837=
ENST00000400366.6:c.2799G>C	ENSP00000383217.3:p.Leu933=
ENST00000448424.7:c.2880G>C	ENSP00000416738.3:p.Leu960=
ENST00000673772.1:c.2898G>C	ENSP00000501168.1:p.Leu966=
ENST00000673867.1:n.3271G>C
ENST00000674126.1:n.3495G>C
ENST00000674147.1:c.2067G>C	ENSP00000500964.1:p.Leu689=
ENST00000242839.8:c.3132G>C	ENSP00000242839.4:p.Leu1044=
ENST00000344297.8:c.2511G>C	ENSP00000342559.5:p.Leu837=
ENST00000400366.5:c.2799G>C	ENSP00000383217.3:p.Leu933=
ENST00000400370.8:c.1842G>C	ENSP00000383221.3:p.Leu614=
ENST00000418097.7:c.2937G>C	ENSP00000393343.2:p.Leu979=
ENST00000448424.6:c.2898G>C	ENSP00000416738.2:p.Leu966=
ENST00000466629.1:n.352G>C
ENST00000634296.1:c.1022-1666G>C
ENST00000634308.1:c.*233G>C	ENSP00000489234.1:n.*233G>C
ENST00000634620.1:n.3876G>C
ENST00000634810.1:n.2477G>C
ENST00000634844.1:c.2988G>C	ENSP00000489398.1:p.Leu996=
ENST00000635406.1:n.478G>C
NM_000053.3:c.3132G>C	NP_000044.2:p.Leu1044=
NM_001005918.2:c.2511G>C	NP_001005918.1:p.Leu837=
NM_001243182.1:c.2799G>C	NP_001230111.1:p.Leu933=
XM_005266423.2:c.3036G>C	XP_005266480.1:p.Leu1012=
XM_005266424.3:c.3036G>C	XP_005266481.1:p.Leu1012=
XM_005266427.2:c.2898G>C	XP_005266484.1:p.Leu966=
XM_005266428.1:c.2880G>C	XP_005266485.1:p.Leu960=
XM_005266430.3:c.3132G>C	XP_005266487.1:p.Leu1044=
XM_005266431.2:c.3096G>C	XP_005266488.1:p.Leu1032=
XM_005266432.2:c.2646G>C	XP_005266489.1:p.Leu882=
XM_006719837.2:c.3036G>C	XP_006719900.1:p.Leu1012=
XM_006719838.1:c.948G>C	XP_006719901.1:p.Leu316=
XM_006719839.1:c.877-1666G>C	XP_006719902.1:n.877-1666G>C
XM_011535117.1:c.3036G>C	XP_011533419.1:p.Leu1012=
XM_011535118.1:c.2997G>C	XP_011533420.1:p.Leu999=
XM_011535119.1:c.3061-1666G>C	XP_011533421.1:n.3061-1666G>C
XM_011535120.1:c.2718G>C	XP_011533422.1:p.Leu906=
XM_011535121.1:c.2731-1666G>C	XP_011533423.1:n.2731-1666G>C
XM_011535122.1:c.1800G>C	XP_011533424.1:p.Leu600=
XR_941601.1:n.3351G>C
XR_941602.1:n.3351G>C
XR_941603.1:n.3351G>C
XR_941604.1:n.3351G>C
NM_001330578.1:c.2898G>C	NP_001317507.1:p.Leu966=
NM_001330579.1:c.2880G>C	NP_001317508.1:p.Leu960=
XM_005266424.4:c.3036G>C	XP_005266481.1:p.Leu1012=
XM_005266430.4:c.3132G>C	XP_005266487.1:p.Leu1044=
XM_005266431.4:c.3096G>C	XP_005266488.1:p.Leu1032=
XM_006719837.3:c.3036G>C	XP_006719900.1:p.Leu1012=
XM_011535117.3:c.3036G>C	XP_011533419.1:p.Leu1012=
XM_017020627.1:c.3036G>C	XP_016876116.1:p.Leu1012=
NM_000053.4:c.3132G>C MANE Select	NP_000044.2:p.Leu1044=
NM_001005918.3:c.2511G>C	NP_001005918.1:p.Leu837=
NM_001330579.2:c.2880G>C	NP_001317508.1:p.Leu960=
NM_001243182.2:c.2799G>C	NP_001230111.1:p.Leu933=
NM_001330578.2:c.2898G>C	NP_001317507.1:p.Leu966=