Canonical Allele Identifier: CA401660097

Gene: TYMS ENOSF1

Linked Data

• gnomAD v4: 18-672881-T-C
• MyVariant Identifiers: chr18:g.672881T>C (hg19) ; chr18:g.672881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672881T>C , CM000680.2:g.672881T>C	GRCh38
NC_000018.9:g.672881T>C , CM000680.1:g.672881T>C	GRCh37
NC_000018.8:g.662881T>C	NCBI36
NG_028255.1:g.20278T>C , LRG_783:g.20278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.826T>C (TYMS) MANE Select	ENSP00000315644.10:p.Phe276Leu
ENST00000647584.2:c.*1424A>G (ENOSF1) MANE Select	ENSP00000497230.2:n.*1424A>G
ENST00000323224.7:c.724T>C (TYMS)	ENSP00000314727.7:p.Phe242Leu
ENST00000323250.9:c.577T>C (TYMS)	ENSP00000314902.5:p.Phe193Leu
ENST00000323274.14:c.826T>C (TYMS)	ENSP00000315644.10:p.Phe276Leu
ENST00000383578.7:c.*340A>G (ENOSF1)	ENSP00000373072.3:n.*340A>G
ENST00000581920.1:n.404T>C (TYMS)
ENST00000584259.6:n.3783A>G (ENOSF1)
NM_001071.2:c.826T>C , LRG_783t1:c.826T>C (TYMS)	NP_001062.1:p.Phe276Leu
NM_001126123.3:c.*340A>G (ENOSF1)	NP_001119595.1:n.*340A>G
NM_017512.5:c.*1424A>G (ENOSF1)	NP_059982.2:n.*1424A>G
NM_202758.3:c.*1424A>G (ENOSF1)	NP_974487.1:n.*1424A>G
XR_243810.3:n.1708A>G (ENOSF1)
XR_243811.2:n.1733A>G (ENOSF1)
XR_430041.2:n.1828A>G (ENOSF1)
NM_001071.3:c.826T>C (TYMS)	NP_001062.1:p.Phe276Leu
NM_001354867.1:c.724T>C (TYMS)	NP_001341796.1:p.Phe242Leu
NM_001354868.1:c.577T>C (TYMS)	NP_001341797.1:p.Phe193Leu
NR_148706.1:n.1633A>G (ENOSF1)
NR_148707.1:n.1749A>G (ENOSF1)
NR_148708.1:n.1997A>G (ENOSF1)
NR_148709.1:n.1683A>G (ENOSF1)
NR_148710.1:n.1709A>G (ENOSF1)
NR_148711.1:n.1560A>G (ENOSF1)
NR_148712.1:n.1893A>G (ENOSF1)
XM_024451242.1:c.445T>C (TYMS)	XP_024307010.1:p.Phe149Leu
XR_002958180.1:n.1461A>G (ENOSF1)
XR_430041.4:n.1847A>G (ENOSF1)
NM_001071.4:c.826T>C (TYMS) MANE Select	NP_001062.1:p.Phe276Leu
NM_017512.7:c.*1424A>G (ENOSF1) MANE Select	NP_059982.2:n.*1424A>G
NM_001318760.2:c.*1424A>G (ENOSF1)	NP_001305689.1:n.*1424A>G
NM_001354065.2:c.*1424A>G (ENOSF1)	NP_001340994.1:n.*1424A>G
NM_001354066.2:c.*1424A>G (ENOSF1)	NP_001340995.1:n.*1424A>G
NM_001354067.2:c.*1424A>G (ENOSF1)	NP_001340996.1:n.*1424A>G
NM_001354068.2:c.*1424A>G (ENOSF1)	NP_001340997.1:n.*1424A>G
NM_001354867.2:c.724T>C (TYMS)	NP_001341796.1:p.Phe242Leu
NM_001354868.2:c.577T>C (TYMS)	NP_001341797.1:p.Phe193Leu
NM_202758.5:c.*1424A>G (ENOSF1)	NP_974487.2:n.*1424A>G
NR_148706.2:n.1599A>G (ENOSF1)
NR_148707.2:n.1715A>G (ENOSF1)
NR_148708.2:n.1963A>G (ENOSF1)
NR_148709.2:n.1649A>G (ENOSF1)
NR_148710.2:n.1675A>G (ENOSF1)
NR_148711.2:n.1526A>G (ENOSF1)
NR_148712.2:n.1859A>G (ENOSF1)