Canonical Allele Identifier: CA16042414
Gene: ATP2C1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373762
ClinVar RCV Id: RCV000413901
dbSNP Id: rs1057518594

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.130997697dup , CM000665.2:g.130997697dup GRCh38
NC_000003.11:g.130716541dup , CM000665.1:g.130716541dup GRCh37
NC_000003.10:g.132199231dup NCBI36
NG_007379.1:g.108108dup
NG_007379.2:g.152173dup

Transcript Alleles

HGVS Amino-acid change
NM_001001485.2:c.2335dup VV
NM_001001486.1:c.2335dup VV
NM_001001487.1:c.2335dup VV
NM_001199179.1:c.2335dup VV
NM_001199180.1:c.2437dup VV
NM_001199181.1:c.2437dup VV
NM_001199182.1:c.2320dup VV
NM_001199183.1:c.2287dup VV
NM_001199184.1:c.2287dup VV
NM_001199185.1:c.2335dup VV
NM_014382.3:c.2335dup VV
XM_005247354.1:c.2437dup
XM_005247355.1:c.2335dup
XM_005247356.1:c.2335dup
XM_005247357.1:c.2335dup
XM_005247358.1:c.2287dup
XM_006713585.1:c.2335dup
XM_011512685.1:c.2266dup
XM_011512686.1:c.1501dup
XM_005247354.2:c.2437dup
XM_005247355.2:c.2335dup
XM_005247356.3:c.2335dup
XM_005247358.3:c.2287dup
XM_011512686.2:c.1501dup
XM_017006164.2:c.2335dup
ENST00000328560.12:c.2335dup
ENST00000359644.7:c.2335dup
ENST00000422190.6:c.2335dup
ENST00000428331.6:c.2335dup
ENST00000504381.5:c.2320dup
ENST00000504612.5:n.2196dup
ENST00000504948.5:c.2287dup
ENST00000505330.5:c.2437dup
ENST00000507194.1:n.234dup ENSP00000427087.1:p.=
ENST00000507488.6:c.2437dup
ENST00000508532.5:c.2335dup
ENST00000508660.5:n.888dup
ENST00000510168.5:c.2335dup
ENST00000513801.5:c.2287dup
ENST00000514654.5:n.2505dup
ENST00000533801.6:c.2335dup