Canonical Allele Identifier: CA348597342

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136564717G>A (hg19) ; chr2:g.135807147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135807147G>A , CM000664.2:g.135807147G>A	GRCh38
NC_000002.11:g.136564717G>A , CM000664.1:g.136564717G>A	GRCh37
NC_000002.10:g.136281187G>A	NCBI36
NG_008104.2:g.53023C>T , LRG_338:g.53023C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4154C>T MANE Select	ENSP00000264162.2:p.Ala1385Val
ENST00000264162.6:c.4154C>T	ENSP00000264162.2:p.Ala1385Val
ENST00000452974.1:c.2450C>T	ENSP00000391231.1:p.Ala817Val
NM_002299.2:c.4154C>T , LRG_338t1:c.4154C>T	NP_002290.2:p.Ala1385Val
NM_002299.3:c.4154C>T	NP_002290.2:p.Ala1385Val
XM_017004088.2:c.4154C>T	XP_016859577.1:p.Ala1385Val
NM_002299.4:c.4154C>T MANE Select	NP_002290.2:p.Ala1385Val