Canonical Allele Identifier: CA304753482
Gene: CLPP HGNC NCBI

Linked Data

ClinVar Variation Id: 517329
ClinVar RCV Id: RCV000613888 RCV002066817
dbSNP Id: rs935069392
gnomAD v2: 19-6361627-A-C
gnomAD v3: 19-6361616-A-C
gnomAD v4: 19-6361616-A-C
MyVariant Identifiers: chr19:g.6361627A>C (hg19) chr19:g.6361616A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6361616A>C , CM000681.2:g.6361616A>C GRCh38
NC_000019.9:g.6361627A>C , CM000681.1:g.6361627A>C GRCh37
NC_000019.8:g.6312627A>C NCBI36
NG_033887.1:g.5165A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245816.11:c.42A>C MANE Select ENSP00000245816.3:p.Ser14=
ENST00000245816.8:c.42A>C ENSP00000245816.3:p.Ser14=
ENST00000596070.1:n.52A>C
NM_006012.2:c.42A>C NP_006003.1:p.Ser14=
NM_006012.3:c.42A>C NP_006003.1:p.Ser14=
NM_006012.4:c.42A>C MANE Select NP_006003.1:p.Ser14=
Search 100 bp 5'
Search 100 bp 3'