Canonical Allele Identifier: CA340142220

Gene: TOE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45343656C>T , CM000663.2:g.45343656C>T	GRCh38
NC_000001.10:g.45809328C>T , CM000663.1:g.45809328C>T	GRCh37
NC_000001.9:g.45581915C>T	NCBI36
NG_008189.1:g.1815G>A , LRG_220:g.1815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372090.6:c.1487C>T MANE Select	ENSP00000361162.5:p.Ser496Phe
ENST00000671898.1:c.541-9145G>A	ENSP00000499896.1:n.541-9145G>A
ENST00000372090.5:c.1487C>T	ENSP00000361162.5:p.Ser496Phe
ENST00000495703.5:n.1865C>T
NM_025077.3:c.1487C>T	NP_079353.3:p.Ser496Phe
XM_005270412.2:c.1505C>T	XP_005270469.1:p.Ser502Phe
XM_005270413.3:c.1349C>T	XP_005270470.1:p.Ser450Phe
XM_011540569.1:c.1106C>T	XP_011538871.1:p.Ser369Phe
XR_946532.1:n.1688C>T
XM_005270412.4:c.1505C>T	XP_005270469.1:p.Ser502Phe
XM_005270413.5:c.1349C>T	XP_005270470.1:p.Ser450Phe
XM_011540569.3:c.1106C>T	XP_011538871.1:p.Ser369Phe
XM_024452837.1:c.1436C>T	XP_024308605.1:p.Ser479Phe
XR_001736951.2:n.1778C>T
XR_002959287.1:n.2184C>T
XR_246230.4:n.1782C>T
XR_426587.4:n.1692C>T
XR_946532.3:n.1688C>T
NM_025077.4:c.1487C>T MANE Select	NP_079353.3:p.Ser496Phe