Canonical Allele Identifier: CA415087885

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858076A>C (hg19) ; chrX:g.153592618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592618A>C , CM000685.2:g.153592618A>C	GRCh38
NC_000023.10:g.152858076A>C , CM000685.1:g.152858076A>C	GRCh37
NC_000023.9:g.152511270A>C	NCBI36
NG_008393.2:g.11560T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.545T>G MANE Select	ENSP00000461135.1:p.Leu182Arg
ENST00000429336.5:c.193+1929T>G
ENST00000440428.5:c.545T>G	ENSP00000402949.2:p.Leu182Arg
ENST00000482182.3:c.419T>G	ENSP00000466345.1:p.Leu140Arg
ENST00000576892.7:c.545T>G	ENSP00000461135.1:p.Leu182Arg
ENST00000614850.1:c.277+3386T>G
ENST00000614851.4:c.366T>G
ENST00000620088.4:c.*421T>G	ENSP00000484108.1:n.*421T>G
ENST00000621629.4:c.*421T>G	ENSP00000478747.1:n.*421T>G
ENST00000621817.1:c.*710T>G	ENSP00000481634.1:n.*710T>G
NM_001130997.2:c.545T>G	NP_001124469.1:p.Leu182Arg
NM_152274.4:c.545T>G	NP_689487.2:p.Leu182Arg
XM_005277920.3:c.515T>G	XP_005277977.1:p.Leu172Arg
XM_005277921.3:c.515T>G	XP_005277978.1:p.Leu172Arg
XM_011531213.1:c.419T>G	XP_011529515.1:p.Leu140Arg
XM_011531214.1:c.419T>G	XP_011529516.1:p.Leu140Arg
XM_011531215.1:c.419T>G	XP_011529517.1:p.Leu140Arg
XM_005277920.4:c.515T>G	XP_005277977.1:p.Leu172Arg
XM_005277921.4:c.515T>G	XP_005277978.1:p.Leu172Arg
XM_011531214.2:c.419T>G	XP_011529516.1:p.Leu140Arg
XM_011531215.2:c.419T>G	XP_011529517.1:p.Leu140Arg
XR_002958810.1:n.2450T>G
NM_152274.5:c.545T>G MANE Select	NP_689487.2:p.Leu182Arg
NM_001130997.3:c.545T>G	NP_001124469.1:p.Leu182Arg