Canonical Allele Identifier: CA415087788

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858059C>A (hg19) ; chrX:g.153592601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592601C>A , CM000685.2:g.153592601C>A	GRCh38
NC_000023.10:g.152858059C>A , CM000685.1:g.152858059C>A	GRCh37
NC_000023.9:g.152511253C>A	NCBI36
NG_008393.2:g.11577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.562G>T MANE Select	ENSP00000461135.1:p.Ala188Ser
ENST00000429336.5:c.193+1946G>T
ENST00000440428.5:c.562G>T	ENSP00000402949.2:p.Ala188Ser
ENST00000576892.7:c.562G>T	ENSP00000461135.1:p.Ala188Ser
ENST00000614850.1:c.277+3403G>T
ENST00000614851.4:c.383G>T
ENST00000620088.4:c.*438G>T	ENSP00000484108.1:n.*438G>T
ENST00000621629.4:c.*438G>T	ENSP00000478747.1:n.*438G>T
ENST00000621817.1:c.*727G>T	ENSP00000481634.1:n.*727G>T
NM_001130997.2:c.562G>T	NP_001124469.1:p.Ala188Ser
NM_152274.4:c.562G>T	NP_689487.2:p.Ala188Ser
XM_005277920.3:c.532G>T	XP_005277977.1:p.Ala178Ser
XM_005277921.3:c.532G>T	XP_005277978.1:p.Ala178Ser
XM_011531213.1:c.436G>T	XP_011529515.1:p.Ala146Ser
XM_011531214.1:c.436G>T	XP_011529516.1:p.Ala146Ser
XM_011531215.1:c.436G>T	XP_011529517.1:p.Ala146Ser
XM_005277920.4:c.532G>T	XP_005277977.1:p.Ala178Ser
XM_005277921.4:c.532G>T	XP_005277978.1:p.Ala178Ser
XM_011531214.2:c.436G>T	XP_011529516.1:p.Ala146Ser
XM_011531215.2:c.436G>T	XP_011529517.1:p.Ala146Ser
XR_002958810.1:n.2467G>T
NM_152274.5:c.562G>T MANE Select	NP_689487.2:p.Ala188Ser
NM_001130997.3:c.562G>T	NP_001124469.1:p.Ala188Ser