Canonical Allele Identifier: CA415087915

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858080C>T (hg19) ; chrX:g.153592622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592622C>T , CM000685.2:g.153592622C>T	GRCh38
NC_000023.10:g.152858080C>T , CM000685.1:g.152858080C>T	GRCh37
NC_000023.9:g.152511274C>T	NCBI36
NG_008393.2:g.11556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.541G>A MANE Select	ENSP00000461135.1:p.Ala181Thr
ENST00000429336.5:c.193+1925G>A
ENST00000440428.5:c.541G>A	ENSP00000402949.2:p.Ala181Thr
ENST00000482182.3:c.415G>A	ENSP00000466345.1:p.Ala139Thr
ENST00000576892.7:c.541G>A	ENSP00000461135.1:p.Ala181Thr
ENST00000614850.1:c.277+3382G>A
ENST00000614851.4:c.362G>A
ENST00000620088.4:c.*417G>A	ENSP00000484108.1:n.*417G>A
ENST00000621629.4:c.*417G>A	ENSP00000478747.1:n.*417G>A
ENST00000621817.1:c.*706G>A	ENSP00000481634.1:n.*706G>A
NM_001130997.2:c.541G>A	NP_001124469.1:p.Ala181Thr
NM_152274.4:c.541G>A	NP_689487.2:p.Ala181Thr
XM_005277920.3:c.511G>A	XP_005277977.1:p.Ala171Thr
XM_005277921.3:c.511G>A	XP_005277978.1:p.Ala171Thr
XM_011531213.1:c.415G>A	XP_011529515.1:p.Ala139Thr
XM_011531214.1:c.415G>A	XP_011529516.1:p.Ala139Thr
XM_011531215.1:c.415G>A	XP_011529517.1:p.Ala139Thr
XM_005277920.4:c.511G>A	XP_005277977.1:p.Ala171Thr
XM_005277921.4:c.511G>A	XP_005277978.1:p.Ala171Thr
XM_011531214.2:c.415G>A	XP_011529516.1:p.Ala139Thr
XM_011531215.2:c.415G>A	XP_011529517.1:p.Ala139Thr
XR_002958810.1:n.2446G>A
NM_152274.5:c.541G>A MANE Select	NP_689487.2:p.Ala181Thr
NM_001130997.3:c.541G>A	NP_001124469.1:p.Ala181Thr