Canonical Allele Identifier: CA137310729

Gene: LHFPL5

Linked Data

• dbSNP Id: rs888847706
• gnomAD v4: 6-35814710-T-C
• MyVariant Identifiers: chr6:g.35782487T>C (hg19) ; chr6:g.35814710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814710T>C , CM000668.2:g.35814710T>C	GRCh38
NC_000006.11:g.35782487T>C , CM000668.1:g.35782487T>C	GRCh37
NC_000006.10:g.35890465T>C	NCBI36
NG_012184.1:g.14417T>C
NG_012184.2:g.14417T>C
NG_012184.3:g.22505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.577T>C MANE Select	ENSP00000353346.1:p.Ser193Pro
ENST00000496656.2:n.356T>C
ENST00000651132.1:c.577T>C	ENSP00000498322.1:p.Ser193Pro
ENST00000651676.1:c.577T>C	ENSP00000498699.1:p.Ser193Pro
ENST00000651994.1:c.*70-4727T>C	ENSP00000498310.1:n.*70-4727T>C
ENST00000652718.1:c.409T>C	ENSP00000498866.1:p.Ser137Pro
ENST00000360215.2:c.577T>C	ENSP00000353346.1:p.Ser193Pro
ENST00000496656.1:n.356T>C
NM_182548.3:c.577T>C	NP_872354.1:p.Ser193Pro
XM_011514403.1:c.577T>C	XP_011512705.1:p.Ser193Pro
NM_182548.4:c.577T>C MANE Select	NP_872354.1:p.Ser193Pro