Canonical Allele Identifier: CA390986244

Gene: DLK1

Linked Data

• COSMIC: COSM3729611
• MyVariant Identifiers: chr14:g.101200649G>T (hg19) ; chr14:g.100734312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100734312G>T , CM000676.2:g.100734312G>T	GRCh38
NC_000014.8:g.101200649G>T , CM000676.1:g.101200649G>T	GRCh37
NC_000014.7:g.100270402G>T	NCBI36
NG_016863.2:g.12448G>T
NG_016863.3:g.12448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341267.9:c.568G>T MANE Select	ENSP00000340292.4:p.Gly190Cys
ENST00000331224.10:c.568G>T	ENSP00000331081.6:p.Gly190Cys
ENST00000341267.8:c.568G>T	ENSP00000340292.4:p.Gly190Cys
NM_003836.5:c.568G>T	NP_003827.3:p.Gly190Cys
NM_001317172.1:c.568G>T	NP_001304101.1:p.Gly190Cys
NM_003836.6:c.568G>T	NP_003827.3:p.Gly190Cys
NM_001317172.2:c.568G>T	NP_001304101.2:p.Gly190Cys
NM_003836.7:c.568G>T MANE Select	NP_003827.4:p.Gly190Cys