Canonical Allele Identifier: CA388022067

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511725T>G (hg19) ; chr13:g.51937589T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937589T>G , CM000675.2:g.51937589T>G	GRCh38
NC_000013.10:g.52511725T>G , CM000675.1:g.52511725T>G	GRCh37
NC_000013.9:g.51409726T>G	NCBI36
NG_008806.1:g.78906A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1440A>C	ENSP00000489512.2:n.*1440A>C
ENST00000673864.2:c.*2534A>C	ENSP00000501045.2:n.*2534A>C
ENST00000674147.2:c.3169A>C	ENSP00000500964.2:p.Met1057Leu
ENST00000242839.10:c.3790A>C MANE Select	ENSP00000242839.5:p.Met1264Leu
ENST00000344297.9:c.3169A>C	ENSP00000342559.5:p.Met1057Leu
ENST00000400366.6:c.3457A>C	ENSP00000383217.3:p.Met1153Leu
ENST00000448424.7:c.3538A>C	ENSP00000416738.3:p.Met1180Leu
ENST00000673696.1:n.1031A>C
ENST00000673772.1:c.3556A>C	ENSP00000501168.1:p.Met1186Leu
ENST00000673867.1:n.3929A>C
ENST00000673923.1:n.656A>C
ENST00000674147.1:c.2725A>C	ENSP00000500964.1:p.Met909Leu
ENST00000242839.8:c.3790A>C	ENSP00000242839.4:p.Met1264Leu
ENST00000344297.8:c.3169A>C	ENSP00000342559.5:p.Met1057Leu
ENST00000400366.5:c.3457A>C	ENSP00000383217.3:p.Met1153Leu
ENST00000400370.8:c.2500A>C	ENSP00000383221.3:p.Met834Leu
ENST00000418097.7:c.3595A>C	ENSP00000393343.2:p.Met1199Leu
ENST00000448424.6:c.3556A>C	ENSP00000416738.2:p.Met1186Leu
ENST00000634296.1:c.1568A>C
ENST00000634308.1:c.*891A>C	ENSP00000489234.1:n.*891A>C
ENST00000634620.1:n.4534A>C
ENST00000634810.1:n.3135A>C
ENST00000634844.1:c.3646A>C	ENSP00000489398.1:p.Met1216Leu
NM_000053.3:c.3790A>C	NP_000044.2:p.Met1264Leu
NM_001005918.2:c.3169A>C	NP_001005918.1:p.Met1057Leu
NM_001243182.1:c.3457A>C	NP_001230111.1:p.Met1153Leu
XM_005266423.2:c.3694A>C	XP_005266480.1:p.Met1232Leu
XM_005266424.3:c.3694A>C	XP_005266481.1:p.Met1232Leu
XM_005266427.2:c.3556A>C	XP_005266484.1:p.Met1186Leu
XM_005266428.1:c.3538A>C	XP_005266485.1:p.Met1180Leu
XM_005266430.3:c.3790A>C	XP_005266487.1:p.Met1264Leu
XM_005266431.2:c.3754A>C	XP_005266488.1:p.Met1252Leu
XM_005266432.2:c.3304A>C	XP_005266489.1:p.Met1102Leu
XM_006719837.2:c.3694A>C	XP_006719900.1:p.Met1232Leu
XM_006719838.1:c.1606A>C	XP_006719901.1:p.Met536Leu
XM_006719839.1:c.1423A>C	XP_006719902.1:p.Met475Leu
XM_011535117.1:c.3694A>C	XP_011533419.1:p.Met1232Leu
XM_011535118.1:c.3655A>C	XP_011533420.1:p.Met1219Leu
XM_011535119.1:c.3607A>C	XP_011533421.1:p.Met1203Leu
XM_011535120.1:c.3376A>C	XP_011533422.1:p.Met1126Leu
XM_011535121.1:c.3277A>C	XP_011533423.1:p.Met1093Leu
XM_011535122.1:c.2458A>C	XP_011533424.1:p.Met820Leu
XR_941601.1:n.4009A>C
XR_941602.1:n.4009A>C
XR_941603.1:n.4009A>C
XR_941604.1:n.4009A>C
NM_001330578.1:c.3556A>C	NP_001317507.1:p.Met1186Leu
NM_001330579.1:c.3538A>C	NP_001317508.1:p.Met1180Leu
XM_005266424.4:c.3694A>C	XP_005266481.1:p.Met1232Leu
XM_005266430.4:c.3790A>C	XP_005266487.1:p.Met1264Leu
XM_005266431.4:c.3754A>C	XP_005266488.1:p.Met1252Leu
XM_006719837.3:c.3694A>C	XP_006719900.1:p.Met1232Leu
XM_011535117.3:c.3694A>C	XP_011533419.1:p.Met1232Leu
XM_017020627.1:c.3694A>C	XP_016876116.1:p.Met1232Leu
NM_000053.4:c.3790A>C MANE Select	NP_000044.2:p.Met1264Leu
NM_001005918.3:c.3169A>C	NP_001005918.1:p.Met1057Leu
NM_001330579.2:c.3538A>C	NP_001317508.1:p.Met1180Leu
NM_001243182.2:c.3457A>C	NP_001230111.1:p.Met1153Leu
NM_001330578.2:c.3556A>C	NP_001317507.1:p.Met1186Leu