Canonical Allele Identifier: CA348605637

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136574945G>A (hg19) ; chr2:g.135817375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817375G>A , CM000664.2:g.135817375G>A	GRCh38
NC_000002.11:g.136574945G>A , CM000664.1:g.136574945G>A	GRCh37
NC_000002.10:g.136291415G>A	NCBI36
NG_008104.2:g.42795C>T , LRG_338:g.42795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.1673C>T MANE Select	ENSP00000264162.2:p.Pro558Leu
ENST00000264162.6:c.1673C>T	ENSP00000264162.2:p.Pro558Leu
NM_002299.2:c.1673C>T , LRG_338t1:c.1673C>T	NP_002290.2:p.Pro558Leu
NM_002299.3:c.1673C>T	NP_002290.2:p.Pro558Leu
XM_017004088.2:c.1673C>T	XP_016859577.1:p.Pro558Leu
NM_002299.4:c.1673C>T MANE Select	NP_002290.2:p.Pro558Leu