Canonical Allele Identifier: CA363786164
Gene: LHFPL5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814701C>A , CM000668.2:g.35814701C>A GRCh38
NC_000006.11:g.35782478C>A , CM000668.1:g.35782478C>A GRCh37
NC_000006.10:g.35890456C>A NCBI36
NG_012184.1:g.14408C>A
NG_012184.2:g.14408C>A
NG_012184.3:g.22496C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.568C>A MANE Select ENSP00000353346.1:p.Leu190Ile
ENST00000496656.2:n.347C>A
ENST00000651132.1:c.568C>A ENSP00000498322.1:p.Leu190Ile
ENST00000651676.1:c.568C>A ENSP00000498699.1:p.Leu190Ile
ENST00000651994.1:c.*70-4736C>A ENSP00000498310.1:n.*70-4736C>A
ENST00000652718.1:c.400C>A ENSP00000498866.1:p.Leu134Ile
ENST00000360215.2:c.568C>A ENSP00000353346.1:p.Leu190Ile
ENST00000496656.1:n.347C>A
NM_182548.3:c.568C>A NP_872354.1:p.Leu190Ile
XM_011514403.1:c.568C>A XP_011512705.1:p.Leu190Ile
NM_182548.4:c.568C>A MANE Select NP_872354.1:p.Leu190Ile