Canonical Allele Identifier: CA1621066473
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814708T= , CM000668.2:g.35814708T= GRCh38
NC_000006.11:g.35782485T= , CM000668.1:g.35782485T= GRCh37
NC_000006.10:g.35890463T= NCBI36
NG_012184.1:g.14415T=
NG_012184.2:g.14415T=
NG_012184.3:g.22503T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.575T= MANE Select ENSP00000353346.1:p.Leu192=
ENST00000496656.2:n.354T=
ENST00000651132.1:c.575T= ENSP00000498322.1:p.Leu192=
ENST00000651676.1:c.575T= ENSP00000498699.1:p.Leu192=
ENST00000651994.1:c.*70-4729T= ENSP00000498310.1:n.*70-4729T=
ENST00000652718.1:c.407T= ENSP00000498866.1:p.Leu136=
ENST00000360215.2:c.575T= ENSP00000353346.1:p.Leu192=
ENST00000496656.1:n.354T=
NM_182548.3:c.575T= NP_872354.1:p.Leu192=
XM_011514403.1:c.575T= XP_011512705.1:p.Leu192=
NM_182548.4:c.575T= MANE Select NP_872354.1:p.Leu192=