Canonical Allele Identifier: CA388032175

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520497C>A (hg19) ; chr13:g.51946361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946361C>A , CM000675.2:g.51946361C>A	GRCh38
NC_000013.10:g.52520497C>A , CM000675.1:g.52520497C>A	GRCh37
NC_000013.9:g.51418498C>A	NCBI36
NG_008806.1:g.70134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*816G>T	ENSP00000489512.2:n.*816G>T
ENST00000673864.2:c.*1727G>T	ENSP00000501045.2:n.*1727G>T
ENST00000674147.2:c.2362G>T	ENSP00000500964.2:p.Val788Phe
ENST00000242839.10:c.2983G>T MANE Select	ENSP00000242839.5:p.Val995Phe
ENST00000344297.9:c.2362G>T	ENSP00000342559.5:p.Val788Phe
ENST00000400366.6:c.2650G>T	ENSP00000383217.3:p.Val884Phe
ENST00000448424.7:c.2731G>T	ENSP00000416738.3:p.Val911Phe
ENST00000673772.1:c.2749G>T	ENSP00000501168.1:p.Val917Phe
ENST00000673867.1:n.1130G>T
ENST00000674126.1:n.3346G>T
ENST00000674147.1:c.1918G>T	ENSP00000500964.1:p.Val640Phe
ENST00000242839.8:c.2983G>T	ENSP00000242839.4:p.Val995Phe
ENST00000344297.8:c.2362G>T	ENSP00000342559.5:p.Val788Phe
ENST00000400366.5:c.2650G>T	ENSP00000383217.3:p.Val884Phe
ENST00000400370.8:c.1693G>T	ENSP00000383221.3:p.Val565Phe
ENST00000418097.7:c.2866-2070G>T	ENSP00000393343.2:n.2866-2070G>T
ENST00000448424.6:c.2749G>T	ENSP00000416738.2:p.Val917Phe
ENST00000466629.1:n.203G>T
ENST00000634296.1:c.944G>T
ENST00000634308.1:c.*84G>T	ENSP00000489234.1:n.*84G>T
ENST00000634620.1:n.3727G>T
ENST00000634810.1:n.2328G>T
ENST00000634844.1:c.2839G>T	ENSP00000489398.1:p.Val947Phe
ENST00000635406.1:n.329G>T
NM_000053.3:c.2983G>T	NP_000044.2:p.Val995Phe
NM_001005918.2:c.2362G>T	NP_001005918.1:p.Val788Phe
NM_001243182.1:c.2650G>T	NP_001230111.1:p.Val884Phe
XM_005266423.2:c.2887G>T	XP_005266480.1:p.Val963Phe
XM_005266424.3:c.2887G>T	XP_005266481.1:p.Val963Phe
XM_005266427.2:c.2749G>T	XP_005266484.1:p.Val917Phe
XM_005266428.1:c.2731G>T	XP_005266485.1:p.Val911Phe
XM_005266430.3:c.2983G>T	XP_005266487.1:p.Val995Phe
XM_005266431.2:c.2947G>T	XP_005266488.1:p.Val983Phe
XM_005266432.2:c.2497G>T	XP_005266489.1:p.Val833Phe
XM_006719837.2:c.2887G>T	XP_006719900.1:p.Val963Phe
XM_006719838.1:c.799G>T	XP_006719901.1:p.Val267Phe
XM_006719839.1:c.799G>T	XP_006719902.1:p.Val267Phe
XM_011535117.1:c.2887G>T	XP_011533419.1:p.Val963Phe
XM_011535118.1:c.2848G>T	XP_011533420.1:p.Val950Phe
XM_011535119.1:c.2983G>T	XP_011533421.1:p.Val995Phe
XM_011535120.1:c.2569G>T	XP_011533422.1:p.Val857Phe
XM_011535121.1:c.2730+3646G>T	XP_011533423.1:n.2730+3646G>T
XM_011535122.1:c.1651G>T	XP_011533424.1:p.Val551Phe
XR_941601.1:n.3202G>T
XR_941602.1:n.3202G>T
XR_941603.1:n.3202G>T
XR_941604.1:n.3202G>T
NM_001330578.1:c.2749G>T	NP_001317507.1:p.Val917Phe
NM_001330579.1:c.2731G>T	NP_001317508.1:p.Val911Phe
XM_005266424.4:c.2887G>T	XP_005266481.1:p.Val963Phe
XM_005266430.4:c.2983G>T	XP_005266487.1:p.Val995Phe
XM_005266431.4:c.2947G>T	XP_005266488.1:p.Val983Phe
XM_006719837.3:c.2887G>T	XP_006719900.1:p.Val963Phe
XM_011535117.3:c.2887G>T	XP_011533419.1:p.Val963Phe
XM_017020627.1:c.2887G>T	XP_016876116.1:p.Val963Phe
NM_000053.4:c.2983G>T MANE Select	NP_000044.2:p.Val995Phe
NM_001005918.3:c.2362G>T	NP_001005918.1:p.Val788Phe
NM_001330579.2:c.2731G>T	NP_001317508.1:p.Val911Phe
NM_001243182.2:c.2650G>T	NP_001230111.1:p.Val884Phe
NM_001330578.2:c.2749G>T	NP_001317507.1:p.Val917Phe