Canonical Allele Identifier: CA339906989

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.41010190G>C , CM000663.2:g.41010190G>C	GRCh38
NC_000001.10:g.41475862G>C , CM000663.1:g.41475862G>C	GRCh37
NC_000001.9:g.41248449G>C	NCBI36
NG_034208.1:g.35892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470271.6:c.1721G>C	ENSP00000497901.2:p.Ser574Thr
ENST00000648020.2:c.*1912G>C	ENSP00000497714.1:n.*1912G>C
ENST00000649124.2:c.1721G>C	ENSP00000497744.1:p.Ser574Thr
ENST00000650634.2:n.3315G>C
ENST00000696070.1:c.1028G>C	ENSP00000512372.1:p.Ser343Thr
ENST00000696107.1:c.*268G>C	ENSP00000512401.1:n.*268G>C
ENST00000696108.1:c.*455G>C	ENSP00000512402.1:n.*455G>C
ENST00000696109.1:n.2065G>C
ENST00000463423.6:c.995G>C
ENST00000480420.6:n.1858G>C
ENST00000486889.2:n.4372G>C
ENST00000498694.2:n.1902G>C
ENST00000648020.1:c.*1912G>C	ENSP00000497714.1:n.*1912G>C
ENST00000648801.1:n.3132G>C
ENST00000648914.1:c.*268G>C	ENSP00000496963.1:n.*268G>C
ENST00000649124.1:c.1721G>C	ENSP00000497744.1:p.Ser574Thr
ENST00000649215.1:c.1253G>C	ENSP00000497698.1:p.Ser418Thr
ENST00000649864.1:c.*597G>C	ENSP00000496792.1:n.*597G>C
ENST00000650070.2:c.1721G>C MANE Select	ENSP00000497602.1:p.Ser574Thr
ENST00000650634.1:n.3182G>C
ENST00000372616.1:c.1721G>C	ENSP00000361699.1:p.Ser574Thr
ENST00000372621.8:c.1721G>C	ENSP00000361704.4:p.Ser574Thr
ENST00000463423.5:n.393G>C
ENST00000498694.1:n.438G>C
NM_001301237.1:c.1253G>C	NP_001288166.1:p.Ser418Thr
NM_001905.3:c.1721G>C	NP_001896.2:p.Ser574Thr
NR_125440.1:n.2344G>C
XM_005270536.1:c.1721G>C	XP_005270593.1:p.Ser574Thr
XM_006710390.2:c.1721G>C	XP_006710453.1:p.Ser574Thr
XM_006710391.1:c.1721G>C	XP_006710454.1:p.Ser574Thr
XM_011540821.1:c.1742G>C	XP_011539123.1:p.Ser581Thr
XR_946557.1:n.1774G>C
NM_001905.4:c.1721G>C MANE Select	NP_001896.2:p.Ser574Thr
XM_024453552.1:c.1742G>C	XP_024309320.1:p.Ser581Thr
XM_024453553.1:c.1721G>C	XP_024309321.1:p.Ser574Thr
XM_024453554.1:c.1721G>C	XP_024309322.1:p.Ser574Thr
XR_001737003.1:n.1771G>C
XR_001737004.1:n.3067G>C
XR_002959539.1:n.1769G>C
NM_001301237.2:c.1253G>C	NP_001288166.1:p.Ser418Thr
NR_125440.2:n.1947G>C