Canonical Allele Identifier: CA348591062

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136555708A>T (hg19) ; chr2:g.135798138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135798138A>T , CM000664.2:g.135798138A>T	GRCh38
NC_000002.11:g.136555708A>T , CM000664.1:g.136555708A>T	GRCh37
NC_000002.10:g.136272178A>T	NCBI36
NG_008104.2:g.62032T>A , LRG_338:g.62032T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4867T>A MANE Select	ENSP00000264162.2:p.Phe1623Ile
ENST00000264162.6:c.4867T>A	ENSP00000264162.2:p.Phe1623Ile
ENST00000452974.1:c.2960T>A	ENSP00000391231.1:p.Val987Asp
NM_002299.2:c.4867T>A , LRG_338t1:c.4867T>A	NP_002290.2:p.Phe1623Ile
NM_002299.3:c.4867T>A	NP_002290.2:p.Phe1623Ile
XM_017004088.2:c.4867T>A	XP_016859577.1:p.Phe1623Ile
NM_002299.4:c.4867T>A MANE Select	NP_002290.2:p.Phe1623Ile