Canonical Allele Identifier: CA348606437

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136575300C>G (hg19) ; chr2:g.135817730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817730C>G , CM000664.2:g.135817730C>G	GRCh38
NC_000002.11:g.136575300C>G , CM000664.1:g.136575300C>G	GRCh37
NC_000002.10:g.136291770C>G	NCBI36
NG_008104.2:g.42440G>C , LRG_338:g.42440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.1318G>C MANE Select	ENSP00000264162.2:p.Val440Leu
ENST00000264162.6:c.1318G>C	ENSP00000264162.2:p.Val440Leu
NM_002299.2:c.1318G>C , LRG_338t1:c.1318G>C	NP_002290.2:p.Val440Leu
NM_002299.3:c.1318G>C	NP_002290.2:p.Val440Leu
XM_017004088.2:c.1318G>C	XP_016859577.1:p.Val440Leu
NM_002299.4:c.1318G>C MANE Select	NP_002290.2:p.Val440Leu