Canonical Allele Identifier: CA795379

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40997420C>G , CM000663.2:g.40997420C>G	GRCh38
NC_000001.10:g.41463092C>G , CM000663.1:g.41463092C>G	GRCh37
NC_000001.9:g.41235679C>G	NCBI36
NG_034208.1:g.23122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.899C>G	ENSP00000497762.1:p.Ser300Cys
ENST00000470271.6:c.899C>G	ENSP00000497901.2:p.Ser300Cys
ENST00000648020.2:c.899C>G	ENSP00000497714.1:p.Ser300Cys
ENST00000649124.2:c.899C>G	ENSP00000497744.1:p.Ser300Cys
ENST00000650634.2:n.2361C>G
ENST00000696070.1:c.206C>G	ENSP00000512372.1:p.Ser69Cys
ENST00000696107.1:c.899C>G	ENSP00000512401.1:p.Ser300Cys
ENST00000696108.1:c.899C>G	ENSP00000512402.1:p.Ser300Cys
ENST00000696109.1:n.1261C>G
ENST00000463285.6:c.899C>G	ENSP00000497762.1:p.Ser300Cys
ENST00000463423.6:c.117C>G
ENST00000480420.6:n.1054C>G
ENST00000486889.2:n.3568C>G
ENST00000498694.2:n.1001C>G
ENST00000648020.1:c.899C>G	ENSP00000497714.1:p.Ser300Cys
ENST00000648801.1:n.2310C>G
ENST00000648914.1:c.899C>G	ENSP00000496963.1:p.Ser300Cys
ENST00000649124.1:c.899C>G	ENSP00000497744.1:p.Ser300Cys
ENST00000649215.1:c.431C>G	ENSP00000497698.1:p.Ser144Cys
ENST00000649864.1:c.899C>G	ENSP00000496792.1:p.Ser300Cys
ENST00000650070.2:c.899C>G MANE Select	ENSP00000497602.1:p.Ser300Cys
ENST00000650634.1:n.2228C>G
ENST00000372616.1:c.899C>G	ENSP00000361699.1:p.Ser300Cys
ENST00000372621.8:c.899C>G	ENSP00000361704.4:p.Ser300Cys
ENST00000463285.5:n.116C>G
ENST00000480420.5:n.558C>G
ENST00000486889.1:n.296C>G
NM_001301237.1:c.431C>G	NP_001288166.1:p.Ser144Cys
NM_001905.3:c.899C>G	NP_001896.2:p.Ser300Cys
NR_125440.1:n.1443C>G
XM_005270536.1:c.899C>G	XP_005270593.1:p.Ser300Cys
XM_006710390.2:c.899C>G	XP_006710453.1:p.Ser300Cys
XM_006710391.1:c.899C>G	XP_006710454.1:p.Ser300Cys
XM_011540821.1:c.920C>G	XP_011539123.1:p.Ser307Cys
XM_011540822.1:c.920C>G	XP_011539124.1:p.Ser307Cys
XR_946557.1:n.1049C>G
NM_001905.4:c.899C>G MANE Select	NP_001896.2:p.Ser300Cys
XM_024453552.1:c.920C>G	XP_024309320.1:p.Ser307Cys
XM_024453553.1:c.899C>G	XP_024309321.1:p.Ser300Cys
XM_024453554.1:c.899C>G	XP_024309322.1:p.Ser300Cys
XM_024453561.1:c.920C>G	XP_024309329.1:p.Ser307Cys
XR_001737003.1:n.1046C>G
XR_001737004.1:n.1046C>G
XR_002959539.1:n.1044C>G
NM_001301237.2:c.431C>G	NP_001288166.1:p.Ser144Cys
NR_125440.2:n.1046C>G