Canonical Allele Identifier: CA450125270

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35814709-C-G
• MyVariant Identifiers: chr6:g.35782486C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814709C>G , CM000668.2:g.35814709C>G	GRCh38
NC_000006.11:g.35782486C>G , CM000668.1:g.35782486C>G	GRCh37
NC_000006.10:g.35890464C>G	NCBI36
NG_012184.1:g.14416C>G
NG_012184.2:g.14416C>G
NG_012184.3:g.22504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.576C>G MANE Select	ENSP00000353346.1:p.Leu192=
ENST00000496656.2:n.355C>G
ENST00000651132.1:c.576C>G	ENSP00000498322.1:p.Leu192=
ENST00000651676.1:c.576C>G	ENSP00000498699.1:p.Leu192=
ENST00000651994.1:c.*70-4728C>G	ENSP00000498310.1:n.*70-4728C>G
ENST00000652718.1:c.408C>G	ENSP00000498866.1:p.Leu136=
ENST00000360215.2:c.576C>G	ENSP00000353346.1:p.Leu192=
ENST00000496656.1:n.355C>G
NM_182548.3:c.576C>G	NP_872354.1:p.Leu192=
XM_011514403.1:c.576C>G	XP_011512705.1:p.Leu192=
NM_182548.4:c.576C>G MANE Select	NP_872354.1:p.Leu192=