Canonical Allele Identifier: CA367221266

Gene: NME8 EPDR1

Linked Data

• ClinVar Variation Id: 2976799
• ClinVar RCV Id: RCV003838933
• MyVariant Identifiers: chr7:g.37901692T>G (hg19) ; chr7:g.37862090T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37862090T>G , CM000669.2:g.37862090T>G	GRCh38
NC_000007.13:g.37901692T>G , CM000669.1:g.37901692T>G	GRCh37
NC_000007.12:g.37868217T>G	NCBI36
NG_015893.1:g.18494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199447.9:c.333T>G (NME8) MANE Select	ENSP00000199447.4:p.Ile111Met
ENST00000199447.8:c.333T>G (NME8)	ENSP00000199447.4:p.Ile111Met
ENST00000426106.1:c.105+4745T>G (NME8)	ENSP00000408841.1:n.105+4745T>G
ENST00000440017.5:c.333T>G (NME8)	ENSP00000397063.1:p.Ile111Met
ENST00000444718.5:c.168T>G (NME8)	ENSP00000390596.1:p.Ile56Met
ENST00000455500.5:c.168T>G (NME8)	ENSP00000390047.1:p.Ile56Met
ENST00000476620.1:c.-38+4745T>G (EPDR1)	ENSP00000425858.1:n.-38+4745T>G
NM_016616.4:c.333T>G (NME8)	NP_057700.3:p.Ile111Met
NM_016616.5:c.333T>G (NME8) MANE Select	NP_057700.3:p.Ile111Met