Canonical Allele Identifier: CA363785197

Gene: LHFPL5

Linked Data

• MyVariant Identifiers: chr6:g.35773837T>G (hg19) ; chr6:g.35806060T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35806060T>G , CM000668.2:g.35806060T>G	GRCh38
NC_000006.11:g.35773837T>G , CM000668.1:g.35773837T>G	GRCh37
NC_000006.10:g.35881815T>G	NCBI36
NG_012184.1:g.5767T>G
NG_012184.2:g.5767T>G
NG_012184.3:g.13855T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.390T>G MANE Select	ENSP00000353346.1:p.Cys130Trp
ENST00000651132.1:c.390T>G	ENSP00000498322.1:p.Cys130Trp
ENST00000651676.1:c.390T>G	ENSP00000498699.1:p.Cys130Trp
ENST00000651994.1:c.390T>G	ENSP00000498310.1:p.Cys130Trp
ENST00000652718.1:c.222T>G	ENSP00000498866.1:p.Cys74Trp
ENST00000360215.2:c.390T>G	ENSP00000353346.1:p.Cys130Trp
NM_182548.3:c.390T>G	NP_872354.1:p.Cys130Trp
XM_011514403.1:c.390T>G	XP_011512705.1:p.Cys130Trp
NM_182548.4:c.390T>G MANE Select	NP_872354.1:p.Cys130Trp