Canonical Allele Identifier: CA388029768

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518250T>G (hg19) ; chr13:g.51944114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944114T>G , CM000675.2:g.51944114T>G	GRCh38
NC_000013.10:g.52518250T>G , CM000675.1:g.52518250T>G	GRCh37
NC_000013.9:g.51416251T>G	NCBI36
NG_008806.1:g.72381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1560A>C	ENSP00000489512.2:n.*894-1560A>C
ENST00000673864.2:c.*1982A>C	ENSP00000501045.2:n.*1982A>C
ENST00000674147.2:c.2617A>C	ENSP00000500964.2:p.Lys873Gln
ENST00000242839.10:c.3238A>C MANE Select	ENSP00000242839.5:p.Lys1080Gln
ENST00000344297.9:c.2617A>C	ENSP00000342559.5:p.Lys873Gln
ENST00000400366.6:c.2905A>C	ENSP00000383217.3:p.Lys969Gln
ENST00000448424.7:c.2986A>C	ENSP00000416738.3:p.Lys996Gln
ENST00000673772.1:c.3004A>C	ENSP00000501168.1:p.Lys1002Gln
ENST00000673867.1:n.3377A>C
ENST00000674126.1:n.3601A>C
ENST00000674147.1:c.2173A>C	ENSP00000500964.1:p.Lys725Gln
ENST00000242839.8:c.3238A>C	ENSP00000242839.4:p.Lys1080Gln
ENST00000344297.8:c.2617A>C	ENSP00000342559.5:p.Lys873Gln
ENST00000400366.5:c.2905A>C	ENSP00000383217.3:p.Lys969Gln
ENST00000400370.8:c.1948A>C	ENSP00000383221.3:p.Lys650Gln
ENST00000418097.7:c.3043A>C	ENSP00000393343.2:p.Lys1015Gln
ENST00000448424.6:c.3004A>C	ENSP00000416738.2:p.Lys1002Gln
ENST00000466629.1:n.458A>C
ENST00000634296.1:c.1022-1560A>C
ENST00000634308.1:c.*339A>C	ENSP00000489234.1:n.*339A>C
ENST00000634620.1:n.3982A>C
ENST00000634810.1:n.2583A>C
ENST00000634844.1:c.3094A>C	ENSP00000489398.1:p.Lys1032Gln
NM_000053.3:c.3238A>C	NP_000044.2:p.Lys1080Gln
NM_001005918.2:c.2617A>C	NP_001005918.1:p.Lys873Gln
NM_001243182.1:c.2905A>C	NP_001230111.1:p.Lys969Gln
XM_005266423.2:c.3142A>C	XP_005266480.1:p.Lys1048Gln
XM_005266424.3:c.3142A>C	XP_005266481.1:p.Lys1048Gln
XM_005266427.2:c.3004A>C	XP_005266484.1:p.Lys1002Gln
XM_005266428.1:c.2986A>C	XP_005266485.1:p.Lys996Gln
XM_005266430.3:c.3238A>C	XP_005266487.1:p.Lys1080Gln
XM_005266431.2:c.3202A>C	XP_005266488.1:p.Lys1068Gln
XM_005266432.2:c.2752A>C	XP_005266489.1:p.Lys918Gln
XM_006719837.2:c.3142A>C	XP_006719900.1:p.Lys1048Gln
XM_006719838.1:c.1054A>C	XP_006719901.1:p.Lys352Gln
XM_006719839.1:c.877-1560A>C	XP_006719902.1:n.877-1560A>C
XM_011535117.1:c.3142A>C	XP_011533419.1:p.Lys1048Gln
XM_011535118.1:c.3103A>C	XP_011533420.1:p.Lys1035Gln
XM_011535119.1:c.3061-1560A>C	XP_011533421.1:n.3061-1560A>C
XM_011535120.1:c.2824A>C	XP_011533422.1:p.Lys942Gln
XM_011535121.1:c.2731-1560A>C	XP_011533423.1:n.2731-1560A>C
XM_011535122.1:c.1906A>C	XP_011533424.1:p.Lys636Gln
XR_941601.1:n.3457A>C
XR_941602.1:n.3457A>C
XR_941603.1:n.3457A>C
XR_941604.1:n.3457A>C
NM_001330578.1:c.3004A>C	NP_001317507.1:p.Lys1002Gln
NM_001330579.1:c.2986A>C	NP_001317508.1:p.Lys996Gln
XM_005266424.4:c.3142A>C	XP_005266481.1:p.Lys1048Gln
XM_005266430.4:c.3238A>C	XP_005266487.1:p.Lys1080Gln
XM_005266431.4:c.3202A>C	XP_005266488.1:p.Lys1068Gln
XM_006719837.3:c.3142A>C	XP_006719900.1:p.Lys1048Gln
XM_011535117.3:c.3142A>C	XP_011533419.1:p.Lys1048Gln
XM_017020627.1:c.3142A>C	XP_016876116.1:p.Lys1048Gln
NM_000053.4:c.3238A>C MANE Select	NP_000044.2:p.Lys1080Gln
NM_001005918.3:c.2617A>C	NP_001005918.1:p.Lys873Gln
NM_001330579.2:c.2986A>C	NP_001317508.1:p.Lys996Gln
NM_001243182.2:c.2905A>C	NP_001230111.1:p.Lys969Gln
NM_001330578.2:c.3004A>C	NP_001317507.1:p.Lys1002Gln