Canonical Allele Identifier: CA150155331

Gene: CCDC170

Linked Data

• dbSNP Id: rs989330528
• gnomAD v4: 6-151615614-G-A
• MyVariant Identifiers: chr6:g.151936749G>A (hg19) ; chr6:g.151615614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151615614G>A , CM000668.2:g.151615614G>A	GRCh38
NC_000006.11:g.151936749G>A , CM000668.1:g.151936749G>A	GRCh37
NC_000006.10:g.151978442G>A	NCBI36
NG_021198.1:g.126575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239374.8:c.1882G>A MANE Select	ENSP00000239374.6:p.Val628Met
ENST00000239374.7:c.1882G>A	ENSP00000239374.6:p.Val628Met
NM_025059.3:c.1882G>A	NP_079335.2:p.Val628Met
XM_011536147.1:c.1900G>A	XP_011534449.1:p.Val634Met
XM_011536148.1:c.1699G>A	XP_011534450.1:p.Val567Met
XM_011536147.2:c.1900G>A	XP_011534449.1:p.Val634Met
XM_011536148.2:c.1699G>A	XP_011534450.1:p.Val567Met
XR_001743865.1:n.129+1107C>T
NM_025059.4:c.1882G>A MANE Select	NP_079335.2:p.Val628Met