Canonical Allele Identifier: CA388024639

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939174-G-C
• MyVariant Identifiers: chr13:g.52513310G>C (hg19) ; chr13:g.51939174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939174G>C , CM000675.2:g.51939174G>C	GRCh38
NC_000013.10:g.52513310G>C , CM000675.1:g.52513310G>C	GRCh37
NC_000013.9:g.51411311G>C	NCBI36
NG_008806.1:g.77321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1226C>G	ENSP00000489512.2:n.*1226C>G
ENST00000673864.2:c.*2320C>G	ENSP00000501045.2:n.*2320C>G
ENST00000674147.2:c.2955C>G	ENSP00000500964.2:p.Ile985Met
ENST00000242839.10:c.3576C>G MANE Select	ENSP00000242839.5:p.Ile1192Met
ENST00000344297.9:c.2955C>G	ENSP00000342559.5:p.Ile985Met
ENST00000400366.6:c.3243C>G	ENSP00000383217.3:p.Ile1081Met
ENST00000448424.7:c.3324C>G	ENSP00000416738.3:p.Ile1108Met
ENST00000673696.1:n.817C>G
ENST00000673772.1:c.3342C>G	ENSP00000501168.1:p.Ile1114Met
ENST00000673867.1:n.3715C>G
ENST00000673923.1:n.442C>G
ENST00000674147.1:c.2511C>G	ENSP00000500964.1:p.Ile837Met
ENST00000242839.8:c.3576C>G	ENSP00000242839.4:p.Ile1192Met
ENST00000344297.8:c.2955C>G	ENSP00000342559.5:p.Ile985Met
ENST00000400366.5:c.3243C>G	ENSP00000383217.3:p.Ile1081Met
ENST00000400370.8:c.2286C>G	ENSP00000383221.3:p.Ile762Met
ENST00000418097.7:c.3381C>G	ENSP00000393343.2:p.Ile1127Met
ENST00000448424.6:c.3342C>G	ENSP00000416738.2:p.Ile1114Met
ENST00000634296.1:c.1354C>G
ENST00000634308.1:c.*677C>G	ENSP00000489234.1:n.*677C>G
ENST00000634620.1:n.4320C>G
ENST00000634810.1:n.2921C>G
ENST00000634844.1:c.3432C>G	ENSP00000489398.1:p.Ile1144Met
NM_000053.3:c.3576C>G	NP_000044.2:p.Ile1192Met
NM_001005918.2:c.2955C>G	NP_001005918.1:p.Ile985Met
NM_001243182.1:c.3243C>G	NP_001230111.1:p.Ile1081Met
XM_005266423.2:c.3480C>G	XP_005266480.1:p.Ile1160Met
XM_005266424.3:c.3480C>G	XP_005266481.1:p.Ile1160Met
XM_005266427.2:c.3342C>G	XP_005266484.1:p.Ile1114Met
XM_005266428.1:c.3324C>G	XP_005266485.1:p.Ile1108Met
XM_005266430.3:c.3576C>G	XP_005266487.1:p.Ile1192Met
XM_005266431.2:c.3540C>G	XP_005266488.1:p.Ile1180Met
XM_005266432.2:c.3090C>G	XP_005266489.1:p.Ile1030Met
XM_006719837.2:c.3480C>G	XP_006719900.1:p.Ile1160Met
XM_006719838.1:c.1392C>G	XP_006719901.1:p.Ile464Met
XM_006719839.1:c.1209C>G	XP_006719902.1:p.Ile403Met
XM_011535117.1:c.3480C>G	XP_011533419.1:p.Ile1160Met
XM_011535118.1:c.3441C>G	XP_011533420.1:p.Ile1147Met
XM_011535119.1:c.3393C>G	XP_011533421.1:p.Ile1131Met
XM_011535120.1:c.3162C>G	XP_011533422.1:p.Ile1054Met
XM_011535121.1:c.3063C>G	XP_011533423.1:p.Ile1021Met
XM_011535122.1:c.2244C>G	XP_011533424.1:p.Ile748Met
XR_941601.1:n.3795C>G
XR_941602.1:n.3795C>G
XR_941603.1:n.3795C>G
XR_941604.1:n.3795C>G
NM_001330578.1:c.3342C>G	NP_001317507.1:p.Ile1114Met
NM_001330579.1:c.3324C>G	NP_001317508.1:p.Ile1108Met
XM_005266424.4:c.3480C>G	XP_005266481.1:p.Ile1160Met
XM_005266430.4:c.3576C>G	XP_005266487.1:p.Ile1192Met
XM_005266431.4:c.3540C>G	XP_005266488.1:p.Ile1180Met
XM_006719837.3:c.3480C>G	XP_006719900.1:p.Ile1160Met
XM_011535117.3:c.3480C>G	XP_011533419.1:p.Ile1160Met
XM_017020627.1:c.3480C>G	XP_016876116.1:p.Ile1160Met
NM_000053.4:c.3576C>G MANE Select	NP_000044.2:p.Ile1192Met
NM_001005918.3:c.2955C>G	NP_001005918.1:p.Ile985Met
NM_001330579.2:c.3324C>G	NP_001317508.1:p.Ile1108Met
NM_001243182.2:c.3243C>G	NP_001230111.1:p.Ile1081Met
NM_001330578.2:c.3342C>G	NP_001317507.1:p.Ile1114Met