Canonical Allele Identifier: CA363785729

Gene: LHFPL5

Linked Data

• MyVariant Identifiers: chr6:g.35782337A>T (hg19) ; chr6:g.35814560A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814560A>T , CM000668.2:g.35814560A>T	GRCh38
NC_000006.11:g.35782337A>T , CM000668.1:g.35782337A>T	GRCh37
NC_000006.10:g.35890315A>T	NCBI36
NG_012184.1:g.14267A>T
NG_012184.2:g.14267A>T
NG_012184.3:g.22355A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.427A>T MANE Select	ENSP00000353346.1:p.Ile143Phe
ENST00000496656.2:n.206A>T
ENST00000651132.1:c.427A>T	ENSP00000498322.1:p.Ile143Phe
ENST00000651676.1:c.427A>T	ENSP00000498699.1:p.Ile143Phe
ENST00000651994.1:c.*70-4877A>T	ENSP00000498310.1:n.*70-4877A>T
ENST00000652718.1:c.259A>T	ENSP00000498866.1:p.Ile87Phe
ENST00000360215.2:c.427A>T	ENSP00000353346.1:p.Ile143Phe
ENST00000496656.1:n.206A>T
NM_182548.3:c.427A>T	NP_872354.1:p.Ile143Phe
XM_011514403.1:c.427A>T	XP_011512705.1:p.Ile143Phe
NM_182548.4:c.427A>T MANE Select	NP_872354.1:p.Ile143Phe