Canonical Allele Identifier: CA339903364

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40991245T>A , CM000663.2:g.40991245T>A	GRCh38
NC_000001.10:g.41456917T>A , CM000663.1:g.41456917T>A	GRCh37
NC_000001.9:g.41229504T>A	NCBI36
NG_034208.1:g.16947T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.636T>A	ENSP00000497762.1:p.Asp212Glu
ENST00000470271.6:c.636T>A	ENSP00000497901.2:p.Asp212Glu
ENST00000648020.2:c.636T>A	ENSP00000497714.1:p.Asp212Glu
ENST00000649124.2:c.636T>A	ENSP00000497744.1:p.Asp212Glu
ENST00000650634.2:n.773T>A
ENST00000696070.1:c.-58T>A	ENSP00000512372.1:n.-58T>A
ENST00000696107.1:c.636T>A	ENSP00000512401.1:p.Asp212Glu
ENST00000696108.1:c.636T>A	ENSP00000512402.1:p.Asp212Glu
ENST00000696109.1:n.998T>A
ENST00000463285.6:c.636T>A	ENSP00000497762.1:p.Asp212Glu
ENST00000479480.6:n.717T>A
ENST00000480420.6:n.791T>A
ENST00000498694.2:n.738T>A
ENST00000648020.1:c.636T>A	ENSP00000497714.1:p.Asp212Glu
ENST00000648801.1:n.722T>A
ENST00000648914.1:c.636T>A	ENSP00000496963.1:p.Asp212Glu
ENST00000649124.1:c.636T>A	ENSP00000497744.1:p.Asp212Glu
ENST00000649215.1:c.168T>A	ENSP00000497698.1:p.Asp56Glu
ENST00000649864.1:c.636T>A	ENSP00000496792.1:p.Asp212Glu
ENST00000650070.2:c.636T>A MANE Select	ENSP00000497602.1:p.Asp212Glu
ENST00000650634.1:n.640T>A
ENST00000372616.1:c.636T>A	ENSP00000361699.1:p.Asp212Glu
ENST00000372621.8:c.636T>A	ENSP00000361704.4:p.Asp212Glu
ENST00000479480.5:n.717T>A
ENST00000480420.5:n.295T>A
NM_001301237.1:c.168T>A	NP_001288166.1:p.Asp56Glu
NM_001905.3:c.636T>A	NP_001896.2:p.Asp212Glu
NR_125440.1:n.1180T>A
XM_005270536.1:c.636T>A	XP_005270593.1:p.Asp212Glu
XM_006710390.2:c.636T>A	XP_006710453.1:p.Asp212Glu
XM_006710391.1:c.636T>A	XP_006710454.1:p.Asp212Glu
XM_011540821.1:c.657T>A	XP_011539123.1:p.Asp219Glu
XM_011540822.1:c.657T>A	XP_011539124.1:p.Asp219Glu
XR_946557.1:n.786T>A
NM_001905.4:c.636T>A MANE Select	NP_001896.2:p.Asp212Glu
XM_024453552.1:c.657T>A	XP_024309320.1:p.Asp219Glu
XM_024453553.1:c.636T>A	XP_024309321.1:p.Asp212Glu
XM_024453554.1:c.636T>A	XP_024309322.1:p.Asp212Glu
XM_024453561.1:c.657T>A	XP_024309329.1:p.Asp219Glu
XR_001737003.1:n.783T>A
XR_001737004.1:n.783T>A
XR_002959539.1:n.781T>A
NM_001301237.2:c.168T>A	NP_001288166.1:p.Asp56Glu
NR_125440.2:n.783T>A