Canonical Allele Identifier: CA363784514

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35805888-T-C
• MyVariant Identifiers: chr6:g.35773665T>C (hg19) ; chr6:g.35805888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805888T>C , CM000668.2:g.35805888T>C	GRCh38
NC_000006.11:g.35773665T>C , CM000668.1:g.35773665T>C	GRCh37
NC_000006.10:g.35881643T>C	NCBI36
NG_012184.1:g.5595T>C
NG_012184.2:g.5595T>C
NG_012184.3:g.13683T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.218T>C MANE Select	ENSP00000353346.1:p.Leu73Pro
ENST00000651132.1:c.218T>C	ENSP00000498322.1:p.Leu73Pro
ENST00000651676.1:c.218T>C	ENSP00000498699.1:p.Leu73Pro
ENST00000651994.1:c.218T>C	ENSP00000498310.1:p.Leu73Pro
ENST00000652718.1:c.50T>C	ENSP00000498866.1:p.Leu17Pro
ENST00000360215.2:c.218T>C	ENSP00000353346.1:p.Leu73Pro
NM_182548.3:c.218T>C	NP_872354.1:p.Leu73Pro
XM_011514403.1:c.218T>C	XP_011512705.1:p.Leu73Pro
NM_182548.4:c.218T>C MANE Select	NP_872354.1:p.Leu73Pro