Canonical Allele Identifier: CA519214189
Gene: CCNQ HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152858105G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592647G>T , CM000685.2:g.153592647G>T GRCh38
NC_000023.10:g.152858105G>T , CM000685.1:g.152858105G>T GRCh37
NC_000023.9:g.152511299G>T NCBI36
NG_008393.2:g.11531C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.516C>A MANE Select ENSP00000461135.1:p.Ala172=
ENST00000429336.5:c.193+1900C>A
ENST00000440428.5:c.516C>A ENSP00000402949.2:p.Ala172=
ENST00000482182.3:c.390C>A ENSP00000466345.1:p.Ala130=
ENST00000576892.7:c.516C>A ENSP00000461135.1:p.Ala172=
ENST00000614850.1:c.277+3357C>A
ENST00000614851.4:c.337C>A
ENST00000620088.4:c.*392C>A ENSP00000484108.1:n.*392C>A
ENST00000621629.4:c.*392C>A ENSP00000478747.1:n.*392C>A
ENST00000621817.1:c.*681C>A ENSP00000481634.1:n.*681C>A
NM_001130997.2:c.516C>A NP_001124469.1:p.Ala172=
NM_152274.4:c.516C>A NP_689487.2:p.Ala172=
XM_005277920.3:c.486C>A XP_005277977.1:p.Ala162=
XM_005277921.3:c.486C>A XP_005277978.1:p.Ala162=
XM_011531213.1:c.390C>A XP_011529515.1:p.Ala130=
XM_011531214.1:c.390C>A XP_011529516.1:p.Ala130=
XM_011531215.1:c.390C>A XP_011529517.1:p.Ala130=
XM_005277920.4:c.486C>A XP_005277977.1:p.Ala162=
XM_005277921.4:c.486C>A XP_005277978.1:p.Ala162=
XM_011531214.2:c.390C>A XP_011529516.1:p.Ala130=
XM_011531215.2:c.390C>A XP_011529517.1:p.Ala130=
XR_002958810.1:n.2421C>A
NM_152274.5:c.516C>A MANE Select NP_689487.2:p.Ala172=
NM_001130997.3:c.516C>A NP_001124469.1:p.Ala172=