Canonical Allele Identifier: CA363785916

Gene: LHFPL5

Linked Data

• MyVariant Identifiers: chr6:g.35782411G>T (hg19) ; chr6:g.35814634G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814634G>T , CM000668.2:g.35814634G>T	GRCh38
NC_000006.11:g.35782411G>T , CM000668.1:g.35782411G>T	GRCh37
NC_000006.10:g.35890389G>T	NCBI36
NG_012184.1:g.14341G>T
NG_012184.2:g.14341G>T
NG_012184.3:g.22429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.501G>T MANE Select	ENSP00000353346.1:p.Lys167Asn
ENST00000496656.2:n.280G>T
ENST00000651132.1:c.501G>T	ENSP00000498322.1:p.Lys167Asn
ENST00000651676.1:c.501G>T	ENSP00000498699.1:p.Lys167Asn
ENST00000651994.1:c.*70-4803G>T	ENSP00000498310.1:n.*70-4803G>T
ENST00000652718.1:c.333G>T	ENSP00000498866.1:p.Lys111Asn
ENST00000360215.2:c.501G>T	ENSP00000353346.1:p.Lys167Asn
ENST00000496656.1:n.280G>T
NM_182548.3:c.501G>T	NP_872354.1:p.Lys167Asn
XM_011514403.1:c.501G>T	XP_011512705.1:p.Lys167Asn
NM_182548.4:c.501G>T MANE Select	NP_872354.1:p.Lys167Asn