Canonical Allele Identifier: CA415088038

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858103A>G (hg19) ; chrX:g.153592645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592645A>G , CM000685.2:g.153592645A>G	GRCh38
NC_000023.10:g.152858103A>G , CM000685.1:g.152858103A>G	GRCh37
NC_000023.9:g.152511297A>G	NCBI36
NG_008393.2:g.11533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.518T>C MANE Select	ENSP00000461135.1:p.Leu173Pro
ENST00000429336.5:c.193+1902T>C
ENST00000440428.5:c.518T>C	ENSP00000402949.2:p.Leu173Pro
ENST00000482182.3:c.392T>C	ENSP00000466345.1:p.Leu131Pro
ENST00000576892.7:c.518T>C	ENSP00000461135.1:p.Leu173Pro
ENST00000614850.1:c.277+3359T>C
ENST00000614851.4:c.339T>C
ENST00000620088.4:c.*394T>C	ENSP00000484108.1:n.*394T>C
ENST00000621629.4:c.*394T>C	ENSP00000478747.1:n.*394T>C
ENST00000621817.1:c.*683T>C	ENSP00000481634.1:n.*683T>C
NM_001130997.2:c.518T>C	NP_001124469.1:p.Leu173Pro
NM_152274.4:c.518T>C	NP_689487.2:p.Leu173Pro
XM_005277920.3:c.488T>C	XP_005277977.1:p.Leu163Pro
XM_005277921.3:c.488T>C	XP_005277978.1:p.Leu163Pro
XM_011531213.1:c.392T>C	XP_011529515.1:p.Leu131Pro
XM_011531214.1:c.392T>C	XP_011529516.1:p.Leu131Pro
XM_011531215.1:c.392T>C	XP_011529517.1:p.Leu131Pro
XM_005277920.4:c.488T>C	XP_005277977.1:p.Leu163Pro
XM_005277921.4:c.488T>C	XP_005277978.1:p.Leu163Pro
XM_011531214.2:c.392T>C	XP_011529516.1:p.Leu131Pro
XM_011531215.2:c.392T>C	XP_011529517.1:p.Leu131Pro
XR_002958810.1:n.2423T>C
NM_152274.5:c.518T>C MANE Select	NP_689487.2:p.Leu173Pro
NM_001130997.3:c.518T>C	NP_001124469.1:p.Leu173Pro