Canonical Allele Identifier: CA3774286
Gene: CLPS HGNC NCBI
LHFPL5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35797291T>C
GRCh37 chr6:g.35765068T>C
gnomAD v2:
6:35765068 T / C
gnomAD v3:
6:35797291 T / C
gnomAD v4:
chr6-35797291-T-C
Joint Max Group AF 0.26674607 (NFE)
Genomes Max Group AF 0.26887925 (NFE)
Exomes Max Group AF 0.26643288 (NFE)
dbSNP:
3748050
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35797291T>C , CM000668.2:g.35797291T>C GRCh38
NC_000006.11:g.35765068T>C , CM000668.1:g.35765068T>C GRCh37
NC_000006.10:g.35873046T>C NCBI36
NG_012184.3:g.5086T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259938.7:c.-3A>G (CLPS) MANE Select ENSP00000259938.2:n.-3A>G
ENST00000651132.1:c.-323+2T>C (LHFPL5) ENSP00000498322.1:n.-323+2T>C
ENST00000259938.6:c.-3A>G (CLPS) ENSP00000259938.2:n.-3A>G
ENST00000616014.3:c.-3A>G (CLPS) ENSP00000483589.1:n.-3A>G
NM_001252597.1:c.-143A>G (CLPS) NP_001239526.1:n.-143A>G
NM_001252598.1:c.-3A>G (CLPS) NP_001239527.1:n.-3A>G
NM_001832.3:c.-3A>G (CLPS) NP_001823.1:n.-3A>G
NM_001252597.2:c.-143A>G (CLPS) NP_001239526.1:n.-143A>G
NM_001832.4:c.-3A>G (CLPS) MANE Select NP_001823.1:n.-3A>G
NM_001252598.2:c.-3A>G (CLPS) NP_001239527.1:n.-3A>G
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