Canonical Allele Identifier: CA388035666

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51970613-G-C
• MyVariant Identifiers: chr13:g.52544749G>C (hg19) ; chr13:g.51970613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51970613G>C , CM000675.2:g.51970613G>C	GRCh38
NC_000013.10:g.52544749G>C , CM000675.1:g.52544749G>C	GRCh37
NC_000013.9:g.51442750G>C	NCBI36
NG_008806.1:g.45882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1422C>G	ENSP00000489512.2:p.Ile474Met
ENST00000673864.2:c.*166C>G	ENSP00000501045.2:n.*166C>G
ENST00000674147.2:c.1422C>G	ENSP00000500964.2:p.Ile474Met
ENST00000242839.10:c.1422C>G MANE Select	ENSP00000242839.5:p.Ile474Met
ENST00000344297.9:c.1422C>G	ENSP00000342559.5:p.Ile474Met
ENST00000400366.6:c.1089C>G	ENSP00000383217.3:p.Ile363Met
ENST00000448424.7:c.1422C>G	ENSP00000416738.3:p.Ile474Met
ENST00000483772.2:n.178C>G
ENST00000673772.1:c.1422C>G	ENSP00000501168.1:p.Ile474Met
ENST00000673789.1:n.378C>G
ENST00000673864.1:c.616C>G	ENSP00000501045.1:n.616C>G
ENST00000674078.1:n.1523C>G
ENST00000674147.1:c.978C>G	ENSP00000500964.1:p.Ile326Met
ENST00000242839.8:c.1422C>G	ENSP00000242839.4:p.Ile474Met
ENST00000344297.8:c.1422C>G	ENSP00000342559.5:p.Ile474Met
ENST00000400366.5:c.1089C>G	ENSP00000383217.3:p.Ile363Met
ENST00000400370.8:c.1285+3322C>G	ENSP00000383221.3:n.1285+3322C>G
ENST00000418097.7:c.1422C>G	ENSP00000393343.2:p.Ile474Met
ENST00000448424.6:c.1422C>G	ENSP00000416738.2:p.Ile474Met
ENST00000482841.6:n.1543C>G
ENST00000483772.1:n.178C>G
ENST00000634308.1:c.1422C>G	ENSP00000489234.1:p.Ile474Met
ENST00000634844.1:c.1422C>G	ENSP00000489398.1:p.Ile474Met
ENST00000635406.1:n.212-24135C>G
NM_000053.3:c.1422C>G	NP_000044.2:p.Ile474Met
NM_001005918.2:c.1422C>G	NP_001005918.1:p.Ile474Met
NM_001243182.1:c.1089C>G	NP_001230111.1:p.Ile363Met
XM_005266423.2:c.1326C>G	XP_005266480.1:p.Ile442Met
XM_005266424.3:c.1326C>G	XP_005266481.1:p.Ile442Met
XM_005266427.2:c.1422C>G	XP_005266484.1:p.Ile474Met
XM_005266428.1:c.1422C>G	XP_005266485.1:p.Ile474Met
XM_005266430.3:c.1422C>G	XP_005266487.1:p.Ile474Met
XM_005266431.2:c.1386C>G	XP_005266488.1:p.Ile462Met
XM_005266432.2:c.1422C>G	XP_005266489.1:p.Ile474Met
XM_006719837.2:c.1326C>G	XP_006719900.1:p.Ile442Met
XM_011535117.1:c.1326C>G	XP_011533419.1:p.Ile442Met
XM_011535118.1:c.1422C>G	XP_011533420.1:p.Ile474Met
XM_011535119.1:c.1422C>G	XP_011533421.1:p.Ile474Met
XM_011535120.1:c.1422C>G	XP_011533422.1:p.Ile474Met
XM_011535121.1:c.1422C>G	XP_011533423.1:p.Ile474Met
XM_011535122.1:c.90C>G	XP_011533424.1:p.Ile30Met
XR_941601.1:n.1641C>G
XR_941602.1:n.1641C>G
XR_941603.1:n.1641C>G
XR_941604.1:n.1641C>G
NM_001330578.1:c.1422C>G	NP_001317507.1:p.Ile474Met
NM_001330579.1:c.1422C>G	NP_001317508.1:p.Ile474Met
XM_005266424.4:c.1326C>G	XP_005266481.1:p.Ile442Met
XM_005266430.4:c.1422C>G	XP_005266487.1:p.Ile474Met
XM_005266431.4:c.1386C>G	XP_005266488.1:p.Ile462Met
XM_006719837.3:c.1326C>G	XP_006719900.1:p.Ile442Met
XM_011535117.3:c.1326C>G	XP_011533419.1:p.Ile442Met
XM_017020627.1:c.1326C>G	XP_016876116.1:p.Ile442Met
NM_000053.4:c.1422C>G MANE Select	NP_000044.2:p.Ile474Met
NM_001005918.3:c.1422C>G	NP_001005918.1:p.Ile474Met
NM_001330579.2:c.1422C>G	NP_001317508.1:p.Ile474Met
NM_001243182.2:c.1089C>G	NP_001230111.1:p.Ile363Met
NM_001330578.2:c.1422C>G	NP_001317507.1:p.Ile474Met