Canonical Allele Identifier: CA363785764

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35814577-C-A
• MyVariant Identifiers: chr6:g.35782354C>A (hg19) ; chr6:g.35814577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814577C>A , CM000668.2:g.35814577C>A	GRCh38
NC_000006.11:g.35782354C>A , CM000668.1:g.35782354C>A	GRCh37
NC_000006.10:g.35890332C>A	NCBI36
NG_012184.1:g.14284C>A
NG_012184.2:g.14284C>A
NG_012184.3:g.22372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.444C>A MANE Select	ENSP00000353346.1:p.Tyr148Ter
ENST00000496656.2:n.223C>A
ENST00000651132.1:c.444C>A	ENSP00000498322.1:p.Tyr148Ter
ENST00000651676.1:c.444C>A	ENSP00000498699.1:p.Tyr148Ter
ENST00000651994.1:c.*70-4860C>A	ENSP00000498310.1:n.*70-4860C>A
ENST00000652718.1:c.276C>A	ENSP00000498866.1:p.Tyr92Ter
ENST00000360215.2:c.444C>A	ENSP00000353346.1:p.Tyr148Ter
ENST00000496656.1:n.223C>A
NM_182548.3:c.444C>A	NP_872354.1:p.Tyr148Ter
XM_011514403.1:c.444C>A	XP_011512705.1:p.Tyr148Ter
NM_182548.4:c.444C>A MANE Select	NP_872354.1:p.Tyr148Ter