Canonical Allele Identifier: CA363785708

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35814549-C-T
• MyVariant Identifiers: chr6:g.35782326C>T (hg19) ; chr6:g.35814549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814549C>T , CM000668.2:g.35814549C>T	GRCh38
NC_000006.11:g.35782326C>T , CM000668.1:g.35782326C>T	GRCh37
NC_000006.10:g.35890304C>T	NCBI36
NG_012184.1:g.14256C>T
NG_012184.2:g.14256C>T
NG_012184.3:g.22344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.416C>T MANE Select	ENSP00000353346.1:p.Thr139Ile
ENST00000496656.2:n.195C>T
ENST00000651132.1:c.416C>T	ENSP00000498322.1:p.Thr139Ile
ENST00000651676.1:c.416C>T	ENSP00000498699.1:p.Thr139Ile
ENST00000651994.1:c.*70-4888C>T	ENSP00000498310.1:n.*70-4888C>T
ENST00000652718.1:c.248C>T	ENSP00000498866.1:p.Thr83Ile
ENST00000360215.2:c.416C>T	ENSP00000353346.1:p.Thr139Ile
ENST00000496656.1:n.195C>T
NM_182548.3:c.416C>T	NP_872354.1:p.Thr139Ile
XM_011514403.1:c.416C>T	XP_011512705.1:p.Thr139Ile
NM_182548.4:c.416C>T MANE Select	NP_872354.1:p.Thr139Ile