Canonical Allele Identifier: CA388030797

Gene: ATP7B

Linked Data

• dbSNP Id: rs1449244685
• MyVariant Identifiers: chr13:g.52518425T>C (hg19) ; chr13:g.51944289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944289T>C , CM000675.2:g.51944289T>C	GRCh38
NC_000013.10:g.52518425T>C , CM000675.1:g.52518425T>C	GRCh37
NC_000013.9:g.51416426T>C	NCBI36
NG_008806.1:g.72206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1735A>G	ENSP00000489512.2:n.*894-1735A>G
ENST00000673864.2:c.*1807A>G	ENSP00000501045.2:n.*1807A>G
ENST00000674147.2:c.2442A>G	ENSP00000500964.2:p.Ile814Met
ENST00000242839.10:c.3063A>G MANE Select	ENSP00000242839.5:p.Ile1021Met
ENST00000344297.9:c.2442A>G	ENSP00000342559.5:p.Ile814Met
ENST00000400366.6:c.2730A>G	ENSP00000383217.3:p.Ile910Met
ENST00000448424.7:c.2811A>G	ENSP00000416738.3:p.Ile937Met
ENST00000673772.1:c.2829A>G	ENSP00000501168.1:p.Ile943Met
ENST00000673867.1:n.3202A>G
ENST00000674126.1:n.3426A>G
ENST00000674147.1:c.1998A>G	ENSP00000500964.1:p.Ile666Met
ENST00000242839.8:c.3063A>G	ENSP00000242839.4:p.Ile1021Met
ENST00000344297.8:c.2442A>G	ENSP00000342559.5:p.Ile814Met
ENST00000400366.5:c.2730A>G	ENSP00000383217.3:p.Ile910Met
ENST00000400370.8:c.1773A>G	ENSP00000383221.3:p.Ile591Met
ENST00000418097.7:c.2868A>G	ENSP00000393343.2:p.Ile956Met
ENST00000448424.6:c.2829A>G	ENSP00000416738.2:p.Ile943Met
ENST00000466629.1:n.283A>G
ENST00000634296.1:c.1022-1735A>G
ENST00000634308.1:c.*164A>G	ENSP00000489234.1:n.*164A>G
ENST00000634620.1:n.3807A>G
ENST00000634810.1:n.2408A>G
ENST00000634844.1:c.2919A>G	ENSP00000489398.1:p.Ile973Met
ENST00000635406.1:n.409A>G
NM_000053.3:c.3063A>G	NP_000044.2:p.Ile1021Met
NM_001005918.2:c.2442A>G	NP_001005918.1:p.Ile814Met
NM_001243182.1:c.2730A>G	NP_001230111.1:p.Ile910Met
XM_005266423.2:c.2967A>G	XP_005266480.1:p.Ile989Met
XM_005266424.3:c.2967A>G	XP_005266481.1:p.Ile989Met
XM_005266427.2:c.2829A>G	XP_005266484.1:p.Ile943Met
XM_005266428.1:c.2811A>G	XP_005266485.1:p.Ile937Met
XM_005266430.3:c.3063A>G	XP_005266487.1:p.Ile1021Met
XM_005266431.2:c.3027A>G	XP_005266488.1:p.Ile1009Met
XM_005266432.2:c.2577A>G	XP_005266489.1:p.Ile859Met
XM_006719837.2:c.2967A>G	XP_006719900.1:p.Ile989Met
XM_006719838.1:c.879A>G	XP_006719901.1:p.Ile293Met
XM_006719839.1:c.877-1735A>G	XP_006719902.1:n.877-1735A>G
XM_011535117.1:c.2967A>G	XP_011533419.1:p.Ile989Met
XM_011535118.1:c.2928A>G	XP_011533420.1:p.Ile976Met
XM_011535119.1:c.3061-1735A>G	XP_011533421.1:n.3061-1735A>G
XM_011535120.1:c.2649A>G	XP_011533422.1:p.Ile883Met
XM_011535121.1:c.2731-1735A>G	XP_011533423.1:n.2731-1735A>G
XM_011535122.1:c.1731A>G	XP_011533424.1:p.Ile577Met
XR_941601.1:n.3282A>G
XR_941602.1:n.3282A>G
XR_941603.1:n.3282A>G
XR_941604.1:n.3282A>G
NM_001330578.1:c.2829A>G	NP_001317507.1:p.Ile943Met
NM_001330579.1:c.2811A>G	NP_001317508.1:p.Ile937Met
XM_005266424.4:c.2967A>G	XP_005266481.1:p.Ile989Met
XM_005266430.4:c.3063A>G	XP_005266487.1:p.Ile1021Met
XM_005266431.4:c.3027A>G	XP_005266488.1:p.Ile1009Met
XM_006719837.3:c.2967A>G	XP_006719900.1:p.Ile989Met
XM_011535117.3:c.2967A>G	XP_011533419.1:p.Ile989Met
XM_017020627.1:c.2967A>G	XP_016876116.1:p.Ile989Met
NM_000053.4:c.3063A>G MANE Select	NP_000044.2:p.Ile1021Met
NM_001005918.3:c.2442A>G	NP_001005918.1:p.Ile814Met
NM_001330579.2:c.2811A>G	NP_001317508.1:p.Ile937Met
NM_001243182.2:c.2730A>G	NP_001230111.1:p.Ile910Met
NM_001330578.2:c.2829A>G	NP_001317507.1:p.Ile943Met