Canonical Allele Identifier: CA401660187

Gene: TYMS ENOSF1

Linked Data

• MyVariant Identifiers: chr18:g.672900T>G (hg19) ; chr18:g.672900T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672900T>G , CM000680.2:g.672900T>G	GRCh38
NC_000018.9:g.672900T>G , CM000680.1:g.672900T>G	GRCh37
NC_000018.8:g.662900T>G	NCBI36
NG_028255.1:g.20297T>G , LRG_783:g.20297T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.845T>G (TYMS) MANE Select	ENSP00000315644.10:p.Leu282Arg
ENST00000647584.2:c.*1405A>C (ENOSF1) MANE Select	ENSP00000497230.2:n.*1405A>C
ENST00000323224.7:c.743T>G (TYMS)	ENSP00000314727.7:p.Leu248Arg
ENST00000323250.9:c.596T>G (TYMS)	ENSP00000314902.5:p.Leu199Arg
ENST00000323274.14:c.845T>G (TYMS)	ENSP00000315644.10:p.Leu282Arg
ENST00000383578.7:c.*321A>C (ENOSF1)	ENSP00000373072.3:n.*321A>C
ENST00000581920.1:n.423T>G (TYMS)
ENST00000584259.6:n.3764A>C (ENOSF1)
NM_001071.2:c.845T>G , LRG_783t1:c.845T>G (TYMS)	NP_001062.1:p.Leu282Arg
NM_001126123.3:c.*321A>C (ENOSF1)	NP_001119595.1:n.*321A>C
NM_017512.5:c.*1405A>C (ENOSF1)	NP_059982.2:n.*1405A>C
NM_202758.3:c.*1405A>C (ENOSF1)	NP_974487.1:n.*1405A>C
XR_243810.3:n.1689A>C (ENOSF1)
XR_243811.2:n.1714A>C (ENOSF1)
XR_430041.2:n.1809A>C (ENOSF1)
NM_001071.3:c.845T>G (TYMS)	NP_001062.1:p.Leu282Arg
NM_001354867.1:c.743T>G (TYMS)	NP_001341796.1:p.Leu248Arg
NM_001354868.1:c.596T>G (TYMS)	NP_001341797.1:p.Leu199Arg
NR_148706.1:n.1614A>C (ENOSF1)
NR_148707.1:n.1730A>C (ENOSF1)
NR_148708.1:n.1978A>C (ENOSF1)
NR_148709.1:n.1664A>C (ENOSF1)
NR_148710.1:n.1690A>C (ENOSF1)
NR_148711.1:n.1541A>C (ENOSF1)
NR_148712.1:n.1874A>C (ENOSF1)
XM_024451242.1:c.464T>G (TYMS)	XP_024307010.1:p.Leu155Arg
XR_002958180.1:n.1442A>C (ENOSF1)
XR_430041.4:n.1828A>C (ENOSF1)
NM_001071.4:c.845T>G (TYMS) MANE Select	NP_001062.1:p.Leu282Arg
NM_017512.7:c.*1405A>C (ENOSF1) MANE Select	NP_059982.2:n.*1405A>C
NM_001318760.2:c.*1405A>C (ENOSF1)	NP_001305689.1:n.*1405A>C
NM_001354065.2:c.*1405A>C (ENOSF1)	NP_001340994.1:n.*1405A>C
NM_001354066.2:c.*1405A>C (ENOSF1)	NP_001340995.1:n.*1405A>C
NM_001354067.2:c.*1405A>C (ENOSF1)	NP_001340996.1:n.*1405A>C
NM_001354068.2:c.*1405A>C (ENOSF1)	NP_001340997.1:n.*1405A>C
NM_001354867.2:c.743T>G (TYMS)	NP_001341796.1:p.Leu248Arg
NM_001354868.2:c.596T>G (TYMS)	NP_001341797.1:p.Leu199Arg
NM_202758.5:c.*1405A>C (ENOSF1)	NP_974487.2:n.*1405A>C
NR_148706.2:n.1580A>C (ENOSF1)
NR_148707.2:n.1696A>C (ENOSF1)
NR_148708.2:n.1944A>C (ENOSF1)
NR_148709.2:n.1630A>C (ENOSF1)
NR_148710.2:n.1656A>C (ENOSF1)
NR_148711.2:n.1507A>C (ENOSF1)
NR_148712.2:n.1840A>C (ENOSF1)