Canonical Allele Identifier: CA21130313

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40984895C>T , CM000663.2:g.40984895C>T	GRCh38
NC_000001.10:g.41450567C>T , CM000663.1:g.41450567C>T	GRCh37
NC_000001.9:g.41223154C>T	NCBI36
NG_034208.1:g.10597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.241C>T	ENSP00000497762.1:p.Arg81Cys
ENST00000470271.6:c.241C>T	ENSP00000497901.2:p.Arg81Cys
ENST00000648020.2:c.241C>T	ENSP00000497714.1:p.Arg81Cys
ENST00000649124.2:c.241C>T	ENSP00000497744.1:p.Arg81Cys
ENST00000650634.2:n.378C>T
ENST00000696070.1:c.-139+5066C>T	ENSP00000512372.1:n.-139+5066C>T
ENST00000696107.1:c.241C>T	ENSP00000512401.1:p.Arg81Cys
ENST00000696108.1:c.241C>T	ENSP00000512402.1:p.Arg81Cys
ENST00000696109.1:n.603C>T
ENST00000463285.6:c.241C>T	ENSP00000497762.1:p.Arg81Cys
ENST00000479480.6:n.322C>T
ENST00000480420.6:n.396C>T
ENST00000498694.2:n.343C>T
ENST00000648020.1:c.241C>T	ENSP00000497714.1:p.Arg81Cys
ENST00000648801.1:n.327C>T
ENST00000648914.1:c.241C>T	ENSP00000496963.1:p.Arg81Cys
ENST00000649124.1:c.241C>T	ENSP00000497744.1:p.Arg81Cys
ENST00000649864.1:c.241C>T	ENSP00000496792.1:p.Arg81Cys
ENST00000650070.2:c.241C>T MANE Select	ENSP00000497602.1:p.Arg81Cys
ENST00000650634.1:n.245C>T
ENST00000372616.1:c.241C>T	ENSP00000361699.1:p.Arg81Cys
ENST00000372621.8:c.241C>T	ENSP00000361704.4:p.Arg81Cys
ENST00000470271.5:n.708C>T
ENST00000479480.5:n.322C>T
NM_001905.3:c.241C>T	NP_001896.2:p.Arg81Cys
NR_125440.1:n.785C>T
XM_005270536.1:c.241C>T	XP_005270593.1:p.Arg81Cys
XM_006710390.2:c.241C>T	XP_006710453.1:p.Arg81Cys
XM_006710391.1:c.241C>T	XP_006710454.1:p.Arg81Cys
XM_011540821.1:c.262C>T	XP_011539123.1:p.Arg88Cys
XM_011540822.1:c.262C>T	XP_011539124.1:p.Arg88Cys
XR_946557.1:n.391C>T
NM_001905.4:c.241C>T MANE Select	NP_001896.2:p.Arg81Cys
XM_024453552.1:c.262C>T	XP_024309320.1:p.Arg88Cys
XM_024453553.1:c.241C>T	XP_024309321.1:p.Arg81Cys
XM_024453554.1:c.241C>T	XP_024309322.1:p.Arg81Cys
XM_024453561.1:c.262C>T	XP_024309329.1:p.Arg88Cys
XR_001737003.1:n.388C>T
XR_001737004.1:n.388C>T
XR_002959539.1:n.386C>T
NR_125440.2:n.388C>T