Canonical Allele Identifier: CA363786206

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768729352
• COSMIC: COSM1621573
• MyVariant Identifiers: chr6:g.35782488C>T (hg19) ; chr6:g.35814711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814711C>T , CM000668.2:g.35814711C>T	GRCh38
NC_000006.11:g.35782488C>T , CM000668.1:g.35782488C>T	GRCh37
NC_000006.10:g.35890466C>T	NCBI36
NG_012184.1:g.14418C>T
NG_012184.2:g.14418C>T
NG_012184.3:g.22506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.578C>T MANE Select	ENSP00000353346.1:p.Ser193Phe
ENST00000496656.2:n.357C>T
ENST00000651132.1:c.578C>T	ENSP00000498322.1:p.Ser193Phe
ENST00000651676.1:c.578C>T	ENSP00000498699.1:p.Ser193Phe
ENST00000651994.1:c.*70-4726C>T	ENSP00000498310.1:n.*70-4726C>T
ENST00000652718.1:c.410C>T	ENSP00000498866.1:p.Ser137Phe
ENST00000360215.2:c.578C>T	ENSP00000353346.1:p.Ser193Phe
ENST00000496656.1:n.357C>T
NM_182548.3:c.578C>T	NP_872354.1:p.Ser193Phe
XM_011514403.1:c.578C>T	XP_011512705.1:p.Ser193Phe
NM_182548.4:c.578C>T MANE Select	NP_872354.1:p.Ser193Phe