Canonical Allele Identifier: CA388024024

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513250C>A (hg19) ; chr13:g.51939114C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939114C>A , CM000675.2:g.51939114C>A	GRCh38
NC_000013.10:g.52513250C>A , CM000675.1:g.52513250C>A	GRCh37
NC_000013.9:g.51411251C>A	NCBI36
NG_008806.1:g.77381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1286G>T	ENSP00000489512.2:n.*1286G>T
ENST00000673864.2:c.*2380G>T	ENSP00000501045.2:n.*2380G>T
ENST00000674147.2:c.3015G>T	ENSP00000500964.2:p.Met1005Ile
ENST00000242839.10:c.3636G>T MANE Select	ENSP00000242839.5:p.Met1212Ile
ENST00000344297.9:c.3015G>T	ENSP00000342559.5:p.Met1005Ile
ENST00000400366.6:c.3303G>T	ENSP00000383217.3:p.Met1101Ile
ENST00000448424.7:c.3384G>T	ENSP00000416738.3:p.Met1128Ile
ENST00000673696.1:n.877G>T
ENST00000673772.1:c.3402G>T	ENSP00000501168.1:p.Met1134Ile
ENST00000673867.1:n.3775G>T
ENST00000673923.1:n.502G>T
ENST00000674147.1:c.2571G>T	ENSP00000500964.1:p.Met857Ile
ENST00000242839.8:c.3636G>T	ENSP00000242839.4:p.Met1212Ile
ENST00000344297.8:c.3015G>T	ENSP00000342559.5:p.Met1005Ile
ENST00000400366.5:c.3303G>T	ENSP00000383217.3:p.Met1101Ile
ENST00000400370.8:c.2346G>T	ENSP00000383221.3:p.Met782Ile
ENST00000418097.7:c.3441G>T	ENSP00000393343.2:p.Met1147Ile
ENST00000448424.6:c.3402G>T	ENSP00000416738.2:p.Met1134Ile
ENST00000634296.1:c.1414G>T
ENST00000634308.1:c.*737G>T	ENSP00000489234.1:n.*737G>T
ENST00000634620.1:n.4380G>T
ENST00000634810.1:n.2981G>T
ENST00000634844.1:c.3492G>T	ENSP00000489398.1:p.Met1164Ile
NM_000053.3:c.3636G>T	NP_000044.2:p.Met1212Ile
NM_001005918.2:c.3015G>T	NP_001005918.1:p.Met1005Ile
NM_001243182.1:c.3303G>T	NP_001230111.1:p.Met1101Ile
XM_005266423.2:c.3540G>T	XP_005266480.1:p.Met1180Ile
XM_005266424.3:c.3540G>T	XP_005266481.1:p.Met1180Ile
XM_005266427.2:c.3402G>T	XP_005266484.1:p.Met1134Ile
XM_005266428.1:c.3384G>T	XP_005266485.1:p.Met1128Ile
XM_005266430.3:c.3636G>T	XP_005266487.1:p.Met1212Ile
XM_005266431.2:c.3600G>T	XP_005266488.1:p.Met1200Ile
XM_005266432.2:c.3150G>T	XP_005266489.1:p.Met1050Ile
XM_006719837.2:c.3540G>T	XP_006719900.1:p.Met1180Ile
XM_006719838.1:c.1452G>T	XP_006719901.1:p.Met484Ile
XM_006719839.1:c.1269G>T	XP_006719902.1:p.Met423Ile
XM_011535117.1:c.3540G>T	XP_011533419.1:p.Met1180Ile
XM_011535118.1:c.3501G>T	XP_011533420.1:p.Met1167Ile
XM_011535119.1:c.3453G>T	XP_011533421.1:p.Met1151Ile
XM_011535120.1:c.3222G>T	XP_011533422.1:p.Met1074Ile
XM_011535121.1:c.3123G>T	XP_011533423.1:p.Met1041Ile
XM_011535122.1:c.2304G>T	XP_011533424.1:p.Met768Ile
XR_941601.1:n.3855G>T
XR_941602.1:n.3855G>T
XR_941603.1:n.3855G>T
XR_941604.1:n.3855G>T
NM_001330578.1:c.3402G>T	NP_001317507.1:p.Met1134Ile
NM_001330579.1:c.3384G>T	NP_001317508.1:p.Met1128Ile
XM_005266424.4:c.3540G>T	XP_005266481.1:p.Met1180Ile
XM_005266430.4:c.3636G>T	XP_005266487.1:p.Met1212Ile
XM_005266431.4:c.3600G>T	XP_005266488.1:p.Met1200Ile
XM_006719837.3:c.3540G>T	XP_006719900.1:p.Met1180Ile
XM_011535117.3:c.3540G>T	XP_011533419.1:p.Met1180Ile
XM_017020627.1:c.3540G>T	XP_016876116.1:p.Met1180Ile
NM_000053.4:c.3636G>T MANE Select	NP_000044.2:p.Met1212Ile
NM_001005918.3:c.3015G>T	NP_001005918.1:p.Met1005Ile
NM_001330579.2:c.3384G>T	NP_001317508.1:p.Met1128Ile
NM_001243182.2:c.3303G>T	NP_001230111.1:p.Met1101Ile
NM_001330578.2:c.3402G>T	NP_001317507.1:p.Met1134Ile