Canonical Allele Identifier: CA415087244

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152857976C>A (hg19) ; chrX:g.153592518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592518C>A , CM000685.2:g.153592518C>A	GRCh38
NC_000023.10:g.152857976C>A , CM000685.1:g.152857976C>A	GRCh37
NC_000023.9:g.152511170C>A	NCBI36
NG_008393.2:g.11660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.645G>T MANE Select	ENSP00000461135.1:p.Lys215Asn
ENST00000429336.5:c.193+2029G>T
ENST00000440428.5:c.645G>T	ENSP00000402949.2:p.Lys215Asn
ENST00000576892.7:c.645G>T	ENSP00000461135.1:p.Lys215Asn
ENST00000614850.1:c.277+3486G>T
ENST00000614851.4:c.466G>T
ENST00000620088.4:c.*521G>T	ENSP00000484108.1:n.*521G>T
ENST00000621629.4:c.*521G>T	ENSP00000478747.1:n.*521G>T
NM_001130997.2:c.645G>T	NP_001124469.1:p.Lys215Asn
NM_152274.4:c.645G>T	NP_689487.2:p.Lys215Asn
XM_005277920.3:c.615G>T	XP_005277977.1:p.Lys205Asn
XM_005277921.3:c.615G>T	XP_005277978.1:p.Lys205Asn
XM_011531213.1:c.519G>T	XP_011529515.1:p.Lys173Asn
XM_011531214.1:c.519G>T	XP_011529516.1:p.Lys173Asn
XM_011531215.1:c.519G>T	XP_011529517.1:p.Lys173Asn
XM_005277920.4:c.615G>T	XP_005277977.1:p.Lys205Asn
XM_005277921.4:c.615G>T	XP_005277978.1:p.Lys205Asn
XM_011531214.2:c.519G>T	XP_011529516.1:p.Lys173Asn
XM_011531215.2:c.519G>T	XP_011529517.1:p.Lys173Asn
XR_002958810.1:n.2550G>T
NM_152274.5:c.645G>T MANE Select	NP_689487.2:p.Lys215Asn
NM_001130997.3:c.645G>T	NP_001124469.1:p.Lys215Asn