Canonical Allele Identifier: CA348590899

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136555639T>A (hg19) ; chr2:g.135798069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135798069T>A , CM000664.2:g.135798069T>A	GRCh38
NC_000002.11:g.136555639T>A , CM000664.1:g.136555639T>A	GRCh37
NC_000002.10:g.136272109T>A	NCBI36
NG_008104.2:g.62101A>T , LRG_338:g.62101A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4936A>T MANE Select	ENSP00000264162.2:p.Ile1646Phe
ENST00000264162.6:c.4936A>T	ENSP00000264162.2:p.Ile1646Phe
ENST00000452974.1:c.3029A>T	ENSP00000391231.1:n.3029A>T
NM_002299.2:c.4936A>T , LRG_338t1:c.4936A>T	NP_002290.2:p.Ile1646Phe
NM_002299.3:c.4936A>T	NP_002290.2:p.Ile1646Phe
XM_017004088.2:c.4936A>T	XP_016859577.1:p.Ile1646Phe
NM_002299.4:c.4936A>T MANE Select	NP_002290.2:p.Ile1646Phe