Canonical Allele Identifier: CA390985939

Gene: DLK1

Linked Data

• MyVariant Identifiers: chr14:g.101200582C>A (hg19) ; chr14:g.100734245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100734245C>A , CM000676.2:g.100734245C>A	GRCh38
NC_000014.8:g.101200582C>A , CM000676.1:g.101200582C>A	GRCh37
NC_000014.7:g.100270335C>A	NCBI36
NG_016863.2:g.12381C>A
NG_016863.3:g.12381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341267.9:c.501C>A MANE Select	ENSP00000340292.4:p.Cys167Ter
ENST00000331224.10:c.501C>A	ENSP00000331081.6:p.Cys167Ter
ENST00000341267.8:c.501C>A	ENSP00000340292.4:p.Cys167Ter
NM_003836.5:c.501C>A	NP_003827.3:p.Cys167Ter
NM_001317172.1:c.501C>A	NP_001304101.1:p.Cys167Ter
NM_003836.6:c.501C>A	NP_003827.3:p.Cys167Ter
NM_001317172.2:c.501C>A	NP_001304101.2:p.Cys167Ter
NM_003836.7:c.501C>A MANE Select	NP_003827.4:p.Cys167Ter