Canonical Allele Identifier: CA363786275

Gene: LHFPL5

Linked Data

• MyVariant Identifiers: chr6:g.35782507G>T (hg19) ; chr6:g.35814730G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814730G>T , CM000668.2:g.35814730G>T	GRCh38
NC_000006.11:g.35782507G>T , CM000668.1:g.35782507G>T	GRCh37
NC_000006.10:g.35890485G>T	NCBI36
NG_012184.1:g.14437G>T
NG_012184.2:g.14437G>T
NG_012184.3:g.22525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.597G>T MANE Select	ENSP00000353346.1:p.Leu199Phe
ENST00000496656.2:n.376G>T
ENST00000651132.1:c.597G>T	ENSP00000498322.1:p.Leu199Phe
ENST00000651676.1:c.597G>T	ENSP00000498699.1:p.Leu199Phe
ENST00000651994.1:c.*70-4707G>T	ENSP00000498310.1:n.*70-4707G>T
ENST00000652718.1:c.429G>T	ENSP00000498866.1:p.Leu143Phe
ENST00000360215.2:c.597G>T	ENSP00000353346.1:p.Leu199Phe
ENST00000496656.1:n.376G>T
NM_182548.3:c.597G>T	NP_872354.1:p.Leu199Phe
XM_011514403.1:c.597G>T	XP_011512705.1:p.Leu199Phe
NM_182548.4:c.597G>T MANE Select	NP_872354.1:p.Leu199Phe