Canonical Allele Identifier: CA339903232

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40991216G>C , CM000663.2:g.40991216G>C	GRCh38
NC_000001.10:g.41456888G>C , CM000663.1:g.41456888G>C	GRCh37
NC_000001.9:g.41229475G>C	NCBI36
NG_034208.1:g.16918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.607G>C	ENSP00000497762.1:p.Glu203Gln
ENST00000470271.6:c.607G>C	ENSP00000497901.2:p.Glu203Gln
ENST00000648020.2:c.607G>C	ENSP00000497714.1:p.Glu203Gln
ENST00000649124.2:c.607G>C	ENSP00000497744.1:p.Glu203Gln
ENST00000650634.2:n.744G>C
ENST00000696070.1:c.-87G>C	ENSP00000512372.1:n.-87G>C
ENST00000696107.1:c.607G>C	ENSP00000512401.1:p.Glu203Gln
ENST00000696108.1:c.607G>C	ENSP00000512402.1:p.Glu203Gln
ENST00000696109.1:n.969G>C
ENST00000463285.6:c.607G>C	ENSP00000497762.1:p.Glu203Gln
ENST00000479480.6:n.688G>C
ENST00000480420.6:n.762G>C
ENST00000498694.2:n.709G>C
ENST00000648020.1:c.607G>C	ENSP00000497714.1:p.Glu203Gln
ENST00000648801.1:n.693G>C
ENST00000648914.1:c.607G>C	ENSP00000496963.1:p.Glu203Gln
ENST00000649124.1:c.607G>C	ENSP00000497744.1:p.Glu203Gln
ENST00000649215.1:c.139G>C	ENSP00000497698.1:p.Glu47Gln
ENST00000649864.1:c.607G>C	ENSP00000496792.1:p.Glu203Gln
ENST00000650070.2:c.607G>C MANE Select	ENSP00000497602.1:p.Glu203Gln
ENST00000650634.1:n.611G>C
ENST00000372616.1:c.607G>C	ENSP00000361699.1:p.Glu203Gln
ENST00000372621.8:c.607G>C	ENSP00000361704.4:p.Glu203Gln
ENST00000479480.5:n.688G>C
ENST00000480420.5:n.266G>C
NM_001301237.1:c.139G>C	NP_001288166.1:p.Glu47Gln
NM_001905.3:c.607G>C	NP_001896.2:p.Glu203Gln
NR_125440.1:n.1151G>C
XM_005270536.1:c.607G>C	XP_005270593.1:p.Glu203Gln
XM_006710390.2:c.607G>C	XP_006710453.1:p.Glu203Gln
XM_006710391.1:c.607G>C	XP_006710454.1:p.Glu203Gln
XM_011540821.1:c.628G>C	XP_011539123.1:p.Glu210Gln
XM_011540822.1:c.628G>C	XP_011539124.1:p.Glu210Gln
XR_946557.1:n.757G>C
NM_001905.4:c.607G>C MANE Select	NP_001896.2:p.Glu203Gln
XM_024453552.1:c.628G>C	XP_024309320.1:p.Glu210Gln
XM_024453553.1:c.607G>C	XP_024309321.1:p.Glu203Gln
XM_024453554.1:c.607G>C	XP_024309322.1:p.Glu203Gln
XM_024453561.1:c.628G>C	XP_024309329.1:p.Glu210Gln
XR_001737003.1:n.754G>C
XR_001737004.1:n.754G>C
XR_002959539.1:n.752G>C
NM_001301237.2:c.139G>C	NP_001288166.1:p.Glu47Gln
NR_125440.2:n.754G>C