Canonical Allele Identifier: CA4051982

Gene: CCDC170

Linked Data

• dbSNP Id: rs772198949
• ExAC: 6:151936646 G / T
• gnomAD v2: 6-151936646-G-T
• gnomAD v3: 6-151615511-G-T
• gnomAD v4: 6-151615511-G-T
• MyVariant Identifiers: chr6:g.151936646G>T (hg19) ; chr6:g.151615511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151615511G>T , CM000668.2:g.151615511G>T	GRCh38
NC_000006.11:g.151936646G>T , CM000668.1:g.151936646G>T	GRCh37
NC_000006.10:g.151978339G>T	NCBI36
NG_021198.1:g.126472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239374.8:c.1779G>T MANE Select	ENSP00000239374.6:p.Met593Ile
ENST00000239374.7:c.1779G>T	ENSP00000239374.6:p.Met593Ile
ENST00000537358.1:n.565G>T
NM_025059.3:c.1779G>T	NP_079335.2:p.Met593Ile
XM_011536147.1:c.1797G>T	XP_011534449.1:p.Met599Ile
XM_011536148.1:c.1596G>T	XP_011534450.1:p.Met532Ile
XM_011536147.2:c.1797G>T	XP_011534449.1:p.Met599Ile
XM_011536148.2:c.1596G>T	XP_011534450.1:p.Met532Ile
XR_001743865.1:n.129+1210C>A
NM_025059.4:c.1779G>T MANE Select	NP_079335.2:p.Met593Ile