Canonical Allele Identifier: CA415087576

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858031T>A (hg19) ; chrX:g.153592573T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592573T>A , CM000685.2:g.153592573T>A	GRCh38
NC_000023.10:g.152858031T>A , CM000685.1:g.152858031T>A	GRCh37
NC_000023.9:g.152511225T>A	NCBI36
NG_008393.2:g.11605A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.590A>T MANE Select	ENSP00000461135.1:p.Tyr197Phe
ENST00000429336.5:c.193+1974A>T
ENST00000440428.5:c.590A>T	ENSP00000402949.2:p.Tyr197Phe
ENST00000576892.7:c.590A>T	ENSP00000461135.1:p.Tyr197Phe
ENST00000614850.1:c.277+3431A>T
ENST00000614851.4:c.411A>T
ENST00000620088.4:c.*466A>T	ENSP00000484108.1:n.*466A>T
ENST00000621629.4:c.*466A>T	ENSP00000478747.1:n.*466A>T
NM_001130997.2:c.590A>T	NP_001124469.1:p.Tyr197Phe
NM_152274.4:c.590A>T	NP_689487.2:p.Tyr197Phe
XM_005277920.3:c.560A>T	XP_005277977.1:p.Tyr187Phe
XM_005277921.3:c.560A>T	XP_005277978.1:p.Tyr187Phe
XM_011531213.1:c.464A>T	XP_011529515.1:p.Tyr155Phe
XM_011531214.1:c.464A>T	XP_011529516.1:p.Tyr155Phe
XM_011531215.1:c.464A>T	XP_011529517.1:p.Tyr155Phe
XM_005277920.4:c.560A>T	XP_005277977.1:p.Tyr187Phe
XM_005277921.4:c.560A>T	XP_005277978.1:p.Tyr187Phe
XM_011531214.2:c.464A>T	XP_011529516.1:p.Tyr155Phe
XM_011531215.2:c.464A>T	XP_011529517.1:p.Tyr155Phe
XR_002958810.1:n.2495A>T
NM_152274.5:c.590A>T MANE Select	NP_689487.2:p.Tyr197Phe
NM_001130997.3:c.590A>T	NP_001124469.1:p.Tyr197Phe