Canonical Allele Identifier: CA795337

Gene: CTPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40995931C>T , CM000663.2:g.40995931C>T	GRCh38
NC_000001.10:g.41461603C>T , CM000663.1:g.41461603C>T	GRCh37
NC_000001.9:g.41234190C>T	NCBI36
NG_034208.1:g.21633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463285.7:c.735C>T	ENSP00000497762.1:p.His245=
ENST00000470271.6:c.735C>T	ENSP00000497901.2:p.His245=
ENST00000648020.2:c.735C>T	ENSP00000497714.1:p.His245=
ENST00000649124.2:c.735C>T	ENSP00000497744.1:p.His245=
ENST00000650634.2:n.872C>T
ENST00000696070.1:c.42C>T	ENSP00000512372.1:p.His14=
ENST00000696107.1:c.735C>T	ENSP00000512401.1:p.His245=
ENST00000696108.1:c.735C>T	ENSP00000512402.1:p.His245=
ENST00000696109.1:n.1097C>T
ENST00000463285.6:c.735C>T	ENSP00000497762.1:p.His245=
ENST00000479480.6:n.816C>T
ENST00000480420.6:n.890C>T
ENST00000486889.2:n.2079C>T
ENST00000498694.2:n.837C>T
ENST00000648020.1:c.735C>T	ENSP00000497714.1:p.His245=
ENST00000648801.1:n.821C>T
ENST00000648914.1:c.735C>T	ENSP00000496963.1:p.His245=
ENST00000649124.1:c.735C>T	ENSP00000497744.1:p.His245=
ENST00000649215.1:c.267C>T	ENSP00000497698.1:p.His89=
ENST00000649864.1:c.735C>T	ENSP00000496792.1:p.His245=
ENST00000650070.2:c.735C>T MANE Select	ENSP00000497602.1:p.His245=
ENST00000650634.1:n.739C>T
ENST00000372616.1:c.735C>T	ENSP00000361699.1:p.His245=
ENST00000372621.8:c.735C>T	ENSP00000361704.4:p.His245=
ENST00000480420.5:n.394C>T
NM_001301237.1:c.267C>T	NP_001288166.1:p.His89=
NM_001905.3:c.735C>T	NP_001896.2:p.His245=
NR_125440.1:n.1279C>T
XM_005270536.1:c.735C>T	XP_005270593.1:p.His245=
XM_006710390.2:c.735C>T	XP_006710453.1:p.His245=
XM_006710391.1:c.735C>T	XP_006710454.1:p.His245=
XM_011540821.1:c.756C>T	XP_011539123.1:p.His252=
XM_011540822.1:c.756C>T	XP_011539124.1:p.His252=
XR_946557.1:n.885C>T
NM_001905.4:c.735C>T MANE Select	NP_001896.2:p.His245=
XM_024453552.1:c.756C>T	XP_024309320.1:p.His252=
XM_024453553.1:c.735C>T	XP_024309321.1:p.His245=
XM_024453554.1:c.735C>T	XP_024309322.1:p.His245=
XM_024453561.1:c.756C>T	XP_024309329.1:p.His252=
XR_001737003.1:n.882C>T
XR_001737004.1:n.882C>T
XR_002959539.1:n.880C>T
NM_001301237.2:c.267C>T	NP_001288166.1:p.His89=
NR_125440.2:n.882C>T