Canonical Allele Identifier: CA250077167

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1715870
• ClinVar RCV Id: RCV002301572
• dbSNP Id: rs995516204
• MyVariant Identifiers: chr13:g.52515250T>G (hg19) ; chr13:g.51941114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941114T>G , CM000675.2:g.51941114T>G	GRCh38
NC_000013.10:g.52515250T>G , CM000675.1:g.52515250T>G	GRCh37
NC_000013.9:g.51413251T>G	NCBI36
NG_008806.1:g.75381A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1173A>C	ENSP00000489512.2:n.*1173A>C
ENST00000673864.2:c.*2267A>C	ENSP00000501045.2:n.*2267A>C
ENST00000674147.2:c.2902A>C	ENSP00000500964.2:p.Lys968Gln
ENST00000242839.10:c.3523A>C MANE Select	ENSP00000242839.5:p.Lys1175Gln
ENST00000344297.9:c.2902A>C	ENSP00000342559.5:p.Lys968Gln
ENST00000400366.6:c.3190A>C	ENSP00000383217.3:p.Lys1064Gln
ENST00000448424.7:c.3271A>C	ENSP00000416738.3:p.Lys1091Gln
ENST00000673772.1:c.3289A>C	ENSP00000501168.1:p.Lys1097Gln
ENST00000673867.1:n.3662A>C
ENST00000674126.1:n.3886A>C
ENST00000674147.1:c.2458A>C	ENSP00000500964.1:p.Lys820Gln
ENST00000242839.8:c.3523A>C	ENSP00000242839.4:p.Lys1175Gln
ENST00000344297.8:c.2902A>C	ENSP00000342559.5:p.Lys968Gln
ENST00000400366.5:c.3190A>C	ENSP00000383217.3:p.Lys1064Gln
ENST00000400370.8:c.2233A>C	ENSP00000383221.3:p.Lys745Gln
ENST00000418097.7:c.3328A>C	ENSP00000393343.2:p.Lys1110Gln
ENST00000448424.6:c.3289A>C	ENSP00000416738.2:p.Lys1097Gln
ENST00000634296.1:c.1301A>C
ENST00000634308.1:c.*624A>C	ENSP00000489234.1:n.*624A>C
ENST00000634620.1:n.4267A>C
ENST00000634810.1:n.2868A>C
ENST00000634844.1:c.3379A>C	ENSP00000489398.1:p.Lys1127Gln
NM_000053.3:c.3523A>C	NP_000044.2:p.Lys1175Gln
NM_001005918.2:c.2902A>C	NP_001005918.1:p.Lys968Gln
NM_001243182.1:c.3190A>C	NP_001230111.1:p.Lys1064Gln
XM_005266423.2:c.3427A>C	XP_005266480.1:p.Lys1143Gln
XM_005266424.3:c.3427A>C	XP_005266481.1:p.Lys1143Gln
XM_005266427.2:c.3289A>C	XP_005266484.1:p.Lys1097Gln
XM_005266428.1:c.3271A>C	XP_005266485.1:p.Lys1091Gln
XM_005266430.3:c.3523A>C	XP_005266487.1:p.Lys1175Gln
XM_005266431.2:c.3487A>C	XP_005266488.1:p.Lys1163Gln
XM_005266432.2:c.3037A>C	XP_005266489.1:p.Lys1013Gln
XM_006719837.2:c.3427A>C	XP_006719900.1:p.Lys1143Gln
XM_006719838.1:c.1339A>C	XP_006719901.1:p.Lys447Gln
XM_006719839.1:c.1156A>C	XP_006719902.1:p.Lys386Gln
XM_011535117.1:c.3427A>C	XP_011533419.1:p.Lys1143Gln
XM_011535118.1:c.3388A>C	XP_011533420.1:p.Lys1130Gln
XM_011535119.1:c.3340A>C	XP_011533421.1:p.Lys1114Gln
XM_011535120.1:c.3109A>C	XP_011533422.1:p.Lys1037Gln
XM_011535121.1:c.3010A>C	XP_011533423.1:p.Lys1004Gln
XM_011535122.1:c.2191A>C	XP_011533424.1:p.Lys731Gln
XR_941601.1:n.3742A>C
XR_941602.1:n.3742A>C
XR_941603.1:n.3742A>C
XR_941604.1:n.3742A>C
NM_001330578.1:c.3289A>C	NP_001317507.1:p.Lys1097Gln
NM_001330579.1:c.3271A>C	NP_001317508.1:p.Lys1091Gln
XM_005266424.4:c.3427A>C	XP_005266481.1:p.Lys1143Gln
XM_005266430.4:c.3523A>C	XP_005266487.1:p.Lys1175Gln
XM_005266431.4:c.3487A>C	XP_005266488.1:p.Lys1163Gln
XM_006719837.3:c.3427A>C	XP_006719900.1:p.Lys1143Gln
XM_011535117.3:c.3427A>C	XP_011533419.1:p.Lys1143Gln
XM_017020627.1:c.3427A>C	XP_016876116.1:p.Lys1143Gln
NM_000053.4:c.3523A>C MANE Select	NP_000044.2:p.Lys1175Gln
NM_001005918.3:c.2902A>C	NP_001005918.1:p.Lys968Gln
NM_001330579.2:c.3271A>C	NP_001317508.1:p.Lys1091Gln
NM_001243182.2:c.3190A>C	NP_001230111.1:p.Lys1064Gln
NM_001330578.2:c.3289A>C	NP_001317507.1:p.Lys1097Gln