Canonical Allele Identifier: CA519213946

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858075C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592617C>T , CM000685.2:g.153592617C>T	GRCh38
NC_000023.10:g.152858075C>T , CM000685.1:g.152858075C>T	GRCh37
NC_000023.9:g.152511269C>T	NCBI36
NG_008393.2:g.11561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.546G>A MANE Select	ENSP00000461135.1:p.Leu182=
ENST00000429336.5:c.193+1930G>A
ENST00000440428.5:c.546G>A	ENSP00000402949.2:p.Leu182=
ENST00000482182.3:c.420G>A	ENSP00000466345.1:p.Leu140=
ENST00000576892.7:c.546G>A	ENSP00000461135.1:p.Leu182=
ENST00000614850.1:c.277+3387G>A
ENST00000614851.4:c.367G>A
ENST00000620088.4:c.*422G>A	ENSP00000484108.1:n.*422G>A
ENST00000621629.4:c.*422G>A	ENSP00000478747.1:n.*422G>A
ENST00000621817.1:c.*711G>A	ENSP00000481634.1:n.*711G>A
NM_001130997.2:c.546G>A	NP_001124469.1:p.Leu182=
NM_152274.4:c.546G>A	NP_689487.2:p.Leu182=
XM_005277920.3:c.516G>A	XP_005277977.1:p.Leu172=
XM_005277921.3:c.516G>A	XP_005277978.1:p.Leu172=
XM_011531213.1:c.420G>A	XP_011529515.1:p.Leu140=
XM_011531214.1:c.420G>A	XP_011529516.1:p.Leu140=
XM_011531215.1:c.420G>A	XP_011529517.1:p.Leu140=
XM_005277920.4:c.516G>A	XP_005277977.1:p.Leu172=
XM_005277921.4:c.516G>A	XP_005277978.1:p.Leu172=
XM_011531214.2:c.420G>A	XP_011529516.1:p.Leu140=
XM_011531215.2:c.420G>A	XP_011529517.1:p.Leu140=
XR_002958810.1:n.2451G>A
NM_152274.5:c.546G>A MANE Select	NP_689487.2:p.Leu182=
NM_001130997.3:c.546G>A	NP_001124469.1:p.Leu182=