Canonical Allele Identifier: CA1621058570

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001832.4:c.23T= (CLPS) MANE Select NP_001823.1:p.Leu8=
ENST00000259938.7:c.23T= (CLPS) MANE Select ENSP00000259938.2:p.Leu8=
NM_001252597.1:c.-118T= (CLPS) NP_001239526.1:n.-118T=
NM_001252597.2:c.-118T= (CLPS) NP_001239526.1:n.-118T=
NM_001252598.1:c.23T= (CLPS) NP_001239527.1:p.Leu8=
NM_001252598.2:c.23T= (CLPS) NP_001239527.1:p.Leu8=
NM_001832.3:c.23T= (CLPS) NP_001823.1:p.Leu8=
ENST00000259938.6:c.23T= (CLPS) ENSP00000259938.2:p.Leu8=
ENST00000616014.3:c.23T= (CLPS) ENSP00000483589.1:p.Leu8=
ENST00000651132.1:c.-346A= (LHFPL5) ENSP00000498322.1:n.-346A=