Canonical Allele Identifier: CA417358279

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40983452G>A , CM000663.2:g.40983452G>A	GRCh38
NC_000001.10:g.41449124G>A , CM000663.1:g.41449124G>A	GRCh37
NC_000001.9:g.41221711G>A	NCBI36
NG_034208.1:g.9154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.162G>A	ENSP00000497762.1:p.Glu54=
ENST00000470271.6:c.162G>A	ENSP00000497901.2:p.Glu54=
ENST00000648020.2:c.162G>A	ENSP00000497714.1:p.Glu54=
ENST00000649124.2:c.162G>A	ENSP00000497744.1:p.Glu54=
ENST00000650634.2:n.299G>A
ENST00000696070.1:c.-139+3623G>A	ENSP00000512372.1:n.-139+3623G>A
ENST00000696107.1:c.162G>A	ENSP00000512401.1:p.Glu54=
ENST00000696108.1:c.162G>A	ENSP00000512402.1:p.Glu54=
ENST00000696109.1:n.524G>A
ENST00000696110.1:c.162G>A	ENSP00000512404.1:p.Glu54=
ENST00000696111.1:c.162G>A	ENSP00000512405.1:p.Glu54=
ENST00000463285.6:c.162G>A	ENSP00000497762.1:p.Glu54=
ENST00000479480.6:n.243G>A
ENST00000480420.6:n.317G>A
ENST00000498694.2:n.264G>A
ENST00000648020.1:c.162G>A	ENSP00000497714.1:p.Glu54=
ENST00000648801.1:n.248G>A
ENST00000648914.1:c.162G>A	ENSP00000496963.1:p.Glu54=
ENST00000649124.1:c.162G>A	ENSP00000497744.1:p.Glu54=
ENST00000649864.1:c.162G>A	ENSP00000496792.1:p.Glu54=
ENST00000650070.2:c.162G>A MANE Select	ENSP00000497602.1:p.Glu54=
ENST00000650634.1:n.166G>A
ENST00000372616.1:c.162G>A	ENSP00000361699.1:p.Glu54=
ENST00000372621.8:c.162G>A	ENSP00000361704.4:p.Glu54=
ENST00000470271.5:n.629G>A
ENST00000479480.5:n.243G>A
NM_001905.3:c.162G>A	NP_001896.2:p.Glu54=
NR_125440.1:n.706G>A
XM_005270536.1:c.162G>A	XP_005270593.1:p.Glu54=
XM_006710390.2:c.162G>A	XP_006710453.1:p.Glu54=
XM_006710391.1:c.162G>A	XP_006710454.1:p.Glu54=
XM_011540821.1:c.183G>A	XP_011539123.1:p.Glu61=
XM_011540822.1:c.183G>A	XP_011539124.1:p.Glu61=
XR_946557.1:n.312G>A
NM_001905.4:c.162G>A MANE Select	NP_001896.2:p.Glu54=
XM_024453552.1:c.183G>A	XP_024309320.1:p.Glu61=
XM_024453553.1:c.162G>A	XP_024309321.1:p.Glu54=
XM_024453554.1:c.162G>A	XP_024309322.1:p.Glu54=
XM_024453561.1:c.183G>A	XP_024309329.1:p.Glu61=
XR_001737003.1:n.309G>A
XR_001737004.1:n.309G>A
XR_002959539.1:n.307G>A
NR_125440.2:n.309G>A