Canonical Allele Identifier: CA339901859

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40987404T>G , CM000663.2:g.40987404T>G	GRCh38
NC_000001.10:g.41453076T>G , CM000663.1:g.41453076T>G	GRCh37
NC_000001.9:g.41225663T>G	NCBI36
NG_034208.1:g.13106T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.370T>G	ENSP00000497762.1:p.Trp124Gly
ENST00000470271.6:c.370T>G	ENSP00000497901.2:p.Trp124Gly
ENST00000648020.2:c.370T>G	ENSP00000497714.1:p.Trp124Gly
ENST00000649124.2:c.370T>G	ENSP00000497744.1:p.Trp124Gly
ENST00000650634.2:n.507T>G
ENST00000696070.1:c.-138-3761T>G	ENSP00000512372.1:n.-138-3761T>G
ENST00000696107.1:c.370T>G	ENSP00000512401.1:p.Trp124Gly
ENST00000696108.1:c.370T>G	ENSP00000512402.1:p.Trp124Gly
ENST00000696109.1:n.732T>G
ENST00000463285.6:c.370T>G	ENSP00000497762.1:p.Trp124Gly
ENST00000479480.6:n.451T>G
ENST00000480420.6:n.525T>G
ENST00000498694.2:n.472T>G
ENST00000648020.1:c.370T>G	ENSP00000497714.1:p.Trp124Gly
ENST00000648801.1:n.456T>G
ENST00000648914.1:c.370T>G	ENSP00000496963.1:p.Trp124Gly
ENST00000649124.1:c.370T>G	ENSP00000497744.1:p.Trp124Gly
ENST00000649864.1:c.370T>G	ENSP00000496792.1:p.Trp124Gly
ENST00000650070.2:c.370T>G MANE Select	ENSP00000497602.1:p.Trp124Gly
ENST00000650634.1:n.374T>G
ENST00000372616.1:c.370T>G	ENSP00000361699.1:p.Trp124Gly
ENST00000372621.8:c.370T>G	ENSP00000361704.4:p.Trp124Gly
ENST00000479480.5:n.451T>G
NM_001905.3:c.370T>G	NP_001896.2:p.Trp124Gly
NR_125440.1:n.914T>G
XM_005270536.1:c.370T>G	XP_005270593.1:p.Trp124Gly
XM_006710390.2:c.370T>G	XP_006710453.1:p.Trp124Gly
XM_006710391.1:c.370T>G	XP_006710454.1:p.Trp124Gly
XM_011540821.1:c.391T>G	XP_011539123.1:p.Trp131Gly
XM_011540822.1:c.391T>G	XP_011539124.1:p.Trp131Gly
XR_946557.1:n.520T>G
NM_001905.4:c.370T>G MANE Select	NP_001896.2:p.Trp124Gly
XM_024453552.1:c.391T>G	XP_024309320.1:p.Trp131Gly
XM_024453553.1:c.370T>G	XP_024309321.1:p.Trp124Gly
XM_024453554.1:c.370T>G	XP_024309322.1:p.Trp124Gly
XM_024453561.1:c.391T>G	XP_024309329.1:p.Trp131Gly
XR_001737003.1:n.517T>G
XR_001737004.1:n.517T>G
XR_002959539.1:n.515T>G
NR_125440.2:n.517T>G