Canonical Allele Identifier: CA401660136

Gene: TYMS ENOSF1

Linked Data

• MyVariant Identifiers: chr18:g.672890C>A (hg19) ; chr18:g.672890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672890C>A , CM000680.2:g.672890C>A	GRCh38
NC_000018.9:g.672890C>A , CM000680.1:g.672890C>A	GRCh37
NC_000018.8:g.662890C>A	NCBI36
NG_028255.1:g.20287C>A , LRG_783:g.20287C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.835C>A (TYMS) MANE Select	ENSP00000315644.10:p.Leu279Ile
ENST00000647584.2:c.*1415G>T (ENOSF1) MANE Select	ENSP00000497230.2:n.*1415G>T
ENST00000323224.7:c.733C>A (TYMS)	ENSP00000314727.7:p.Leu245Ile
ENST00000323250.9:c.586C>A (TYMS)	ENSP00000314902.5:p.Leu196Ile
ENST00000323274.14:c.835C>A (TYMS)	ENSP00000315644.10:p.Leu279Ile
ENST00000383578.7:c.*331G>T (ENOSF1)	ENSP00000373072.3:n.*331G>T
ENST00000581920.1:n.413C>A (TYMS)
ENST00000584259.6:n.3774G>T (ENOSF1)
NM_001071.2:c.835C>A , LRG_783t1:c.835C>A (TYMS)	NP_001062.1:p.Leu279Ile
NM_001126123.3:c.*331G>T (ENOSF1)	NP_001119595.1:n.*331G>T
NM_017512.5:c.*1415G>T (ENOSF1)	NP_059982.2:n.*1415G>T
NM_202758.3:c.*1415G>T (ENOSF1)	NP_974487.1:n.*1415G>T
XR_243810.3:n.1699G>T (ENOSF1)
XR_243811.2:n.1724G>T (ENOSF1)
XR_430041.2:n.1819G>T (ENOSF1)
NM_001071.3:c.835C>A (TYMS)	NP_001062.1:p.Leu279Ile
NM_001354867.1:c.733C>A (TYMS)	NP_001341796.1:p.Leu245Ile
NM_001354868.1:c.586C>A (TYMS)	NP_001341797.1:p.Leu196Ile
NR_148706.1:n.1624G>T (ENOSF1)
NR_148707.1:n.1740G>T (ENOSF1)
NR_148708.1:n.1988G>T (ENOSF1)
NR_148709.1:n.1674G>T (ENOSF1)
NR_148710.1:n.1700G>T (ENOSF1)
NR_148711.1:n.1551G>T (ENOSF1)
NR_148712.1:n.1884G>T (ENOSF1)
XM_024451242.1:c.454C>A (TYMS)	XP_024307010.1:p.Leu152Ile
XR_002958180.1:n.1452G>T (ENOSF1)
XR_430041.4:n.1838G>T (ENOSF1)
NM_001071.4:c.835C>A (TYMS) MANE Select	NP_001062.1:p.Leu279Ile
NM_017512.7:c.*1415G>T (ENOSF1) MANE Select	NP_059982.2:n.*1415G>T
NM_001318760.2:c.*1415G>T (ENOSF1)	NP_001305689.1:n.*1415G>T
NM_001354065.2:c.*1415G>T (ENOSF1)	NP_001340994.1:n.*1415G>T
NM_001354066.2:c.*1415G>T (ENOSF1)	NP_001340995.1:n.*1415G>T
NM_001354067.2:c.*1415G>T (ENOSF1)	NP_001340996.1:n.*1415G>T
NM_001354068.2:c.*1415G>T (ENOSF1)	NP_001340997.1:n.*1415G>T
NM_001354867.2:c.733C>A (TYMS)	NP_001341796.1:p.Leu245Ile
NM_001354868.2:c.586C>A (TYMS)	NP_001341797.1:p.Leu196Ile
NM_202758.5:c.*1415G>T (ENOSF1)	NP_974487.2:n.*1415G>T
NR_148706.2:n.1590G>T (ENOSF1)
NR_148707.2:n.1706G>T (ENOSF1)
NR_148708.2:n.1954G>T (ENOSF1)
NR_148709.2:n.1640G>T (ENOSF1)
NR_148710.2:n.1666G>T (ENOSF1)
NR_148711.2:n.1517G>T (ENOSF1)
NR_148712.2:n.1850G>T (ENOSF1)