Canonical Allele Identifier: CA502635124

Linked Data

MyVariant Identifiers: chr18:g.672901T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672901T>G , CM000680.2:g.672901T>G GRCh38
NC_000018.9:g.672901T>G , CM000680.1:g.672901T>G GRCh37
NC_000018.8:g.662901T>G NCBI36
NG_028255.1:g.20298T>G , LRG_783:g.20298T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.846T>G (TYMS) MANE Select ENSP00000315644.10:p.Leu282=
ENST00000647584.2:c.*1404A>C (ENOSF1) MANE Select ENSP00000497230.2:n.*1404A>C
ENST00000323224.7:c.744T>G (TYMS) ENSP00000314727.7:p.Leu248=
ENST00000323250.9:c.597T>G (TYMS) ENSP00000314902.5:p.Leu199=
ENST00000323274.14:c.846T>G (TYMS) ENSP00000315644.10:p.Leu282=
ENST00000383578.7:c.*320A>C (ENOSF1) ENSP00000373072.3:n.*320A>C
ENST00000581920.1:n.424T>G (TYMS)
ENST00000584259.6:n.3763A>C (ENOSF1)
NM_001071.2:c.846T>G , LRG_783t1:c.846T>G (TYMS) NP_001062.1:p.Leu282=
NM_001126123.3:c.*320A>C (ENOSF1) NP_001119595.1:n.*320A>C
NM_017512.5:c.*1404A>C (ENOSF1) NP_059982.2:n.*1404A>C
NM_202758.3:c.*1404A>C (ENOSF1) NP_974487.1:n.*1404A>C
XR_243810.3:n.1688A>C (ENOSF1)
XR_243811.2:n.1713A>C (ENOSF1)
XR_430041.2:n.1808A>C (ENOSF1)
NM_001071.3:c.846T>G (TYMS) NP_001062.1:p.Leu282=
NM_001354867.1:c.744T>G (TYMS) NP_001341796.1:p.Leu248=
NM_001354868.1:c.597T>G (TYMS) NP_001341797.1:p.Leu199=
NR_148706.1:n.1613A>C (ENOSF1)
NR_148707.1:n.1729A>C (ENOSF1)
NR_148708.1:n.1977A>C (ENOSF1)
NR_148709.1:n.1663A>C (ENOSF1)
NR_148710.1:n.1689A>C (ENOSF1)
NR_148711.1:n.1540A>C (ENOSF1)
NR_148712.1:n.1873A>C (ENOSF1)
XM_024451242.1:c.465T>G (TYMS) XP_024307010.1:p.Leu155=
XR_002958180.1:n.1441A>C (ENOSF1)
XR_430041.4:n.1827A>C (ENOSF1)
NM_001071.4:c.846T>G (TYMS) MANE Select NP_001062.1:p.Leu282=
NM_017512.7:c.*1404A>C (ENOSF1) MANE Select NP_059982.2:n.*1404A>C
NM_001318760.2:c.*1404A>C (ENOSF1) NP_001305689.1:n.*1404A>C
NM_001354065.2:c.*1404A>C (ENOSF1) NP_001340994.1:n.*1404A>C
NM_001354066.2:c.*1404A>C (ENOSF1) NP_001340995.1:n.*1404A>C
NM_001354067.2:c.*1404A>C (ENOSF1) NP_001340996.1:n.*1404A>C
NM_001354068.2:c.*1404A>C (ENOSF1) NP_001340997.1:n.*1404A>C
NM_001354867.2:c.744T>G (TYMS) NP_001341796.1:p.Leu248=
NM_001354868.2:c.597T>G (TYMS) NP_001341797.1:p.Leu199=
NM_202758.5:c.*1404A>C (ENOSF1) NP_974487.2:n.*1404A>C
NR_148706.2:n.1579A>C (ENOSF1)
NR_148707.2:n.1695A>C (ENOSF1)
NR_148708.2:n.1943A>C (ENOSF1)
NR_148709.2:n.1629A>C (ENOSF1)
NR_148710.2:n.1655A>C (ENOSF1)
NR_148711.2:n.1506A>C (ENOSF1)
NR_148712.2:n.1839A>C (ENOSF1)