Canonical Allele Identifier: CA502635089

Gene: TYMS ENOSF1

Linked Data

• dbSNP Id: rs2075132819
• gnomAD v4: 18-672880-T-C
• MyVariant Identifiers: chr18:g.672880T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672880T>C , CM000680.2:g.672880T>C	GRCh38
NC_000018.9:g.672880T>C , CM000680.1:g.672880T>C	GRCh37
NC_000018.8:g.662880T>C	NCBI36
NG_028255.1:g.20277T>C , LRG_783:g.20277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.825T>C (TYMS) MANE Select	ENSP00000315644.10:p.Pro275=
ENST00000647584.2:c.*1425A>G (ENOSF1) MANE Select	ENSP00000497230.2:n.*1425A>G
ENST00000323224.7:c.723T>C (TYMS)	ENSP00000314727.7:p.Pro241=
ENST00000323250.9:c.576T>C (TYMS)	ENSP00000314902.5:p.Pro192=
ENST00000323274.14:c.825T>C (TYMS)	ENSP00000315644.10:p.Pro275=
ENST00000383578.7:c.*341A>G (ENOSF1)	ENSP00000373072.3:n.*341A>G
ENST00000581920.1:n.403T>C (TYMS)
ENST00000584259.6:n.3784A>G (ENOSF1)
NM_001071.2:c.825T>C , LRG_783t1:c.825T>C (TYMS)	NP_001062.1:p.Pro275=
NM_001126123.3:c.*341A>G (ENOSF1)	NP_001119595.1:n.*341A>G
NM_017512.5:c.*1425A>G (ENOSF1)	NP_059982.2:n.*1425A>G
NM_202758.3:c.*1425A>G (ENOSF1)	NP_974487.1:n.*1425A>G
XR_243810.3:n.1709A>G (ENOSF1)
XR_243811.2:n.1734A>G (ENOSF1)
XR_430041.2:n.1829A>G (ENOSF1)
NM_001071.3:c.825T>C (TYMS)	NP_001062.1:p.Pro275=
NM_001354867.1:c.723T>C (TYMS)	NP_001341796.1:p.Pro241=
NM_001354868.1:c.576T>C (TYMS)	NP_001341797.1:p.Pro192=
NR_148706.1:n.1634A>G (ENOSF1)
NR_148707.1:n.1750A>G (ENOSF1)
NR_148708.1:n.1998A>G (ENOSF1)
NR_148709.1:n.1684A>G (ENOSF1)
NR_148710.1:n.1710A>G (ENOSF1)
NR_148711.1:n.1561A>G (ENOSF1)
NR_148712.1:n.1894A>G (ENOSF1)
XM_024451242.1:c.444T>C (TYMS)	XP_024307010.1:p.Pro148=
XR_002958180.1:n.1462A>G (ENOSF1)
XR_430041.4:n.1848A>G (ENOSF1)
NM_001071.4:c.825T>C (TYMS) MANE Select	NP_001062.1:p.Pro275=
NM_017512.7:c.*1425A>G (ENOSF1) MANE Select	NP_059982.2:n.*1425A>G
NM_001318760.2:c.*1425A>G (ENOSF1)	NP_001305689.1:n.*1425A>G
NM_001354065.2:c.*1425A>G (ENOSF1)	NP_001340994.1:n.*1425A>G
NM_001354066.2:c.*1425A>G (ENOSF1)	NP_001340995.1:n.*1425A>G
NM_001354067.2:c.*1425A>G (ENOSF1)	NP_001340996.1:n.*1425A>G
NM_001354068.2:c.*1425A>G (ENOSF1)	NP_001340997.1:n.*1425A>G
NM_001354867.2:c.723T>C (TYMS)	NP_001341796.1:p.Pro241=
NM_001354868.2:c.576T>C (TYMS)	NP_001341797.1:p.Pro192=
NM_202758.5:c.*1425A>G (ENOSF1)	NP_974487.2:n.*1425A>G
NR_148706.2:n.1600A>G (ENOSF1)
NR_148707.2:n.1716A>G (ENOSF1)
NR_148708.2:n.1964A>G (ENOSF1)
NR_148709.2:n.1650A>G (ENOSF1)
NR_148710.2:n.1676A>G (ENOSF1)
NR_148711.2:n.1527A>G (ENOSF1)
NR_148712.2:n.1860A>G (ENOSF1)