Canonical Allele Identifier: CA4051971

Gene: CCDC170

Linked Data

• dbSNP Id: rs765576338
• ExAC: 6:151936581 A / T
• gnomAD v2: 6-151936581-A-T
• gnomAD v3: 6-151615446-A-T
• gnomAD v4: 6-151615446-A-T
• MyVariant Identifiers: chr6:g.151936581A>T (hg19) ; chr6:g.151615446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151615446A>T , CM000668.2:g.151615446A>T	GRCh38
NC_000006.11:g.151936581A>T , CM000668.1:g.151936581A>T	GRCh37
NC_000006.10:g.151978274A>T	NCBI36
NG_021198.1:g.126407A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000239374.8:c.1714A>T MANE Select	ENSP00000239374.6:p.Lys572Ter
ENST00000239374.7:c.1714A>T	ENSP00000239374.6:p.Lys572Ter
ENST00000537358.1:n.500A>T
NM_025059.3:c.1714A>T	NP_079335.2:p.Lys572Ter
XM_011536147.1:c.1732A>T	XP_011534449.1:p.Lys578Ter
XM_011536148.1:c.1531A>T	XP_011534450.1:p.Lys511Ter
XM_011536147.2:c.1732A>T	XP_011534449.1:p.Lys578Ter
XM_011536148.2:c.1531A>T	XP_011534450.1:p.Lys511Ter
XR_001743865.1:n.129+1275T>A
NM_025059.4:c.1714A>T MANE Select	NP_079335.2:p.Lys572Ter