Canonical Allele Identifier: CA388030504

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518393A>C (hg19) ; chr13:g.51944257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944257A>C , CM000675.2:g.51944257A>C	GRCh38
NC_000013.10:g.52518393A>C , CM000675.1:g.52518393A>C	GRCh37
NC_000013.9:g.51416394A>C	NCBI36
NG_008806.1:g.72238T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1703T>G	ENSP00000489512.2:n.*894-1703T>G
ENST00000673864.2:c.*1839T>G	ENSP00000501045.2:n.*1839T>G
ENST00000674147.2:c.2474T>G	ENSP00000500964.2:p.Ile825Ser
ENST00000242839.10:c.3095T>G MANE Select	ENSP00000242839.5:p.Ile1032Ser
ENST00000344297.9:c.2474T>G	ENSP00000342559.5:p.Ile825Ser
ENST00000400366.6:c.2762T>G	ENSP00000383217.3:p.Ile921Ser
ENST00000448424.7:c.2843T>G	ENSP00000416738.3:p.Ile948Ser
ENST00000673772.1:c.2861T>G	ENSP00000501168.1:p.Ile954Ser
ENST00000673867.1:n.3234T>G
ENST00000674126.1:n.3458T>G
ENST00000674147.1:c.2030T>G	ENSP00000500964.1:p.Ile677Ser
ENST00000242839.8:c.3095T>G	ENSP00000242839.4:p.Ile1032Ser
ENST00000344297.8:c.2474T>G	ENSP00000342559.5:p.Ile825Ser
ENST00000400366.5:c.2762T>G	ENSP00000383217.3:p.Ile921Ser
ENST00000400370.8:c.1805T>G	ENSP00000383221.3:p.Ile602Ser
ENST00000418097.7:c.2900T>G	ENSP00000393343.2:p.Ile967Ser
ENST00000448424.6:c.2861T>G	ENSP00000416738.2:p.Ile954Ser
ENST00000466629.1:n.315T>G
ENST00000634296.1:c.1022-1703T>G
ENST00000634308.1:c.*196T>G	ENSP00000489234.1:n.*196T>G
ENST00000634620.1:n.3839T>G
ENST00000634810.1:n.2440T>G
ENST00000634844.1:c.2951T>G	ENSP00000489398.1:p.Ile984Ser
ENST00000635406.1:n.441T>G
NM_000053.3:c.3095T>G	NP_000044.2:p.Ile1032Ser
NM_001005918.2:c.2474T>G	NP_001005918.1:p.Ile825Ser
NM_001243182.1:c.2762T>G	NP_001230111.1:p.Ile921Ser
XM_005266423.2:c.2999T>G	XP_005266480.1:p.Ile1000Ser
XM_005266424.3:c.2999T>G	XP_005266481.1:p.Ile1000Ser
XM_005266427.2:c.2861T>G	XP_005266484.1:p.Ile954Ser
XM_005266428.1:c.2843T>G	XP_005266485.1:p.Ile948Ser
XM_005266430.3:c.3095T>G	XP_005266487.1:p.Ile1032Ser
XM_005266431.2:c.3059T>G	XP_005266488.1:p.Ile1020Ser
XM_005266432.2:c.2609T>G	XP_005266489.1:p.Ile870Ser
XM_006719837.2:c.2999T>G	XP_006719900.1:p.Ile1000Ser
XM_006719838.1:c.911T>G	XP_006719901.1:p.Ile304Ser
XM_006719839.1:c.877-1703T>G	XP_006719902.1:n.877-1703T>G
XM_011535117.1:c.2999T>G	XP_011533419.1:p.Ile1000Ser
XM_011535118.1:c.2960T>G	XP_011533420.1:p.Ile987Ser
XM_011535119.1:c.3061-1703T>G	XP_011533421.1:n.3061-1703T>G
XM_011535120.1:c.2681T>G	XP_011533422.1:p.Ile894Ser
XM_011535121.1:c.2731-1703T>G	XP_011533423.1:n.2731-1703T>G
XM_011535122.1:c.1763T>G	XP_011533424.1:p.Ile588Ser
XR_941601.1:n.3314T>G
XR_941602.1:n.3314T>G
XR_941603.1:n.3314T>G
XR_941604.1:n.3314T>G
NM_001330578.1:c.2861T>G	NP_001317507.1:p.Ile954Ser
NM_001330579.1:c.2843T>G	NP_001317508.1:p.Ile948Ser
XM_005266424.4:c.2999T>G	XP_005266481.1:p.Ile1000Ser
XM_005266430.4:c.3095T>G	XP_005266487.1:p.Ile1032Ser
XM_005266431.4:c.3059T>G	XP_005266488.1:p.Ile1020Ser
XM_006719837.3:c.2999T>G	XP_006719900.1:p.Ile1000Ser
XM_011535117.3:c.2999T>G	XP_011533419.1:p.Ile1000Ser
XM_017020627.1:c.2999T>G	XP_016876116.1:p.Ile1000Ser
NM_000053.4:c.3095T>G MANE Select	NP_000044.2:p.Ile1032Ser
NM_001005918.3:c.2474T>G	NP_001005918.1:p.Ile825Ser
NM_001330579.2:c.2843T>G	NP_001317508.1:p.Ile948Ser
NM_001243182.2:c.2762T>G	NP_001230111.1:p.Ile921Ser
NM_001330578.2:c.2861T>G	NP_001317507.1:p.Ile954Ser