Canonical Allele Identifier: CA519213693
Gene: CCNQ HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152858033G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592575G>A , CM000685.2:g.153592575G>A GRCh38
NC_000023.10:g.152858033G>A , CM000685.1:g.152858033G>A GRCh37
NC_000023.9:g.152511227G>A NCBI36
NG_008393.2:g.11603C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.588C>T MANE Select ENSP00000461135.1:p.Leu196=
ENST00000429336.5:c.193+1972C>T
ENST00000440428.5:c.588C>T ENSP00000402949.2:p.Leu196=
ENST00000576892.7:c.588C>T ENSP00000461135.1:p.Leu196=
ENST00000614850.1:c.277+3429C>T
ENST00000614851.4:c.409C>T
ENST00000620088.4:c.*464C>T ENSP00000484108.1:n.*464C>T
ENST00000621629.4:c.*464C>T ENSP00000478747.1:n.*464C>T
ENST00000621817.1:c.*753C>T ENSP00000481634.1:n.*753C>T
NM_001130997.2:c.588C>T NP_001124469.1:p.Leu196=
NM_152274.4:c.588C>T NP_689487.2:p.Leu196=
XM_005277920.3:c.558C>T XP_005277977.1:p.Leu186=
XM_005277921.3:c.558C>T XP_005277978.1:p.Leu186=
XM_011531213.1:c.462C>T XP_011529515.1:p.Leu154=
XM_011531214.1:c.462C>T XP_011529516.1:p.Leu154=
XM_011531215.1:c.462C>T XP_011529517.1:p.Leu154=
XM_005277920.4:c.558C>T XP_005277977.1:p.Leu186=
XM_005277921.4:c.558C>T XP_005277978.1:p.Leu186=
XM_011531214.2:c.462C>T XP_011529516.1:p.Leu154=
XM_011531215.2:c.462C>T XP_011529517.1:p.Leu154=
XR_002958810.1:n.2493C>T
NM_152274.5:c.588C>T MANE Select NP_689487.2:p.Leu196=
NM_001130997.3:c.588C>T NP_001124469.1:p.Leu196=