Canonical Allele Identifier: CA363787737

Gene: CLPS LHFPL5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35797266A>C , CM000668.2:g.35797266A>C	GRCh38
NC_000006.11:g.35765043A>C , CM000668.1:g.35765043A>C	GRCh37
NC_000006.10:g.35873021A>C	NCBI36
NG_012184.3:g.5061A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001832.4:c.23T>G (CLPS) MANE Select	NP_001823.1:p.Leu8Arg
ENST00000259938.7:c.23T>G (CLPS) MANE Select	ENSP00000259938.2:p.Leu8Arg
NM_001252597.1:c.-118T>G (CLPS)	NP_001239526.1:n.-118T>G
NM_001252597.2:c.-118T>G (CLPS)	NP_001239526.1:n.-118T>G
NM_001252598.1:c.23T>G (CLPS)	NP_001239527.1:p.Leu8Arg
NM_001252598.2:c.23T>G (CLPS)	NP_001239527.1:p.Leu8Arg
NM_001832.3:c.23T>G (CLPS)	NP_001823.1:p.Leu8Arg
ENST00000259938.6:c.23T>G (CLPS)	ENSP00000259938.2:p.Leu8Arg
ENST00000616014.3:c.23T>G (CLPS)	ENSP00000483589.1:p.Leu8Arg
ENST00000651132.1:c.-346A>C (LHFPL5)	ENSP00000498322.1:n.-346A>C