Canonical Allele Identifier: CA8058628
Community Standard Title: NM_001080432.3(FTO):c.1393C>T (p.Pro465Ser)
Gene: FTO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.54111790C>T , CM000678.2:g.54111790C>T GRCh38
NC_000016.9:g.54145702C>T , CM000678.1:g.54145702C>T GRCh37
NC_000016.8:g.52703203C>T NCBI36
NG_012969.1:g.412828C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001080432.3:c.1393C>T MANE Select NP_001073901.1:p.Pro465Ser
ENST00000471389.6:c.1393C>T MANE Select ENSP00000418823.1:p.Pro465Ser
NM_001080432.2:c.1393C>T NP_001073901.1:p.Pro465Ser
NM_001363891.1:c.1423C>T NP_001350820.1:p.Pro475Ser
NM_001363894.1:c.1456C>T NP_001350823.1:p.Pro486Ser
NM_001363896.1:c.1375C>T NP_001350825.1:p.Pro459Ser
NM_001363897.1:c.1315C>T NP_001350826.1:p.Pro439Ser
NM_001363898.1:c.1279C>T NP_001350827.1:p.Pro427Ser
NM_001363899.1:c.1279C>T NP_001350828.1:p.Pro427Ser
NM_001363900.1:c.1249C>T NP_001350829.1:p.Pro417Ser
NM_001363901.1:c.1249C>T NP_001350830.1:p.Pro417Ser
NM_001363903.1:c.1268C>T NP_001350832.1:p.Thr423Ile
NM_001363905.1:c.880C>T NP_001350834.1:p.Pro294Ser
NM_001363988.1:c.*51C>T NP_001350917.1:n.*51C>T
NR_156761.1:n.643C>T
ENST00000268349.7:c.126C>T ENSP00000268349.7:p.Tyr42=
ENST00000431610.6:c.196C>T ENSP00000415636.2:p.Pro66Ser
ENST00000460382.5:c.196C>T ENSP00000417422.1:p.Pro66Ser
ENST00000463855.1:c.259C>T ENSP00000417843.1:p.Pro87Ser
ENST00000464071.1:c.*552C>T ENSP00000418424.1:n.*552C>T
ENST00000471389.5:c.1393C>T ENSP00000418823.1:p.Pro465Ser
ENST00000472835.1:n.335C>T
ENST00000612285.2:c.418C>T ENSP00000490300.1:p.Pro140Ser
ENST00000635892.1:n.243C>T
ENST00000636091.1:n.2674C>T
ENST00000636992.1:c.*136C>T ENSP00000489886.1:n.*136C>T
ENST00000637562.1:c.*84C>T ENSP00000490426.1:n.*84C>T
ENST00000637845.1:c.1393C>T ENSP00000489638.1:p.Pro465Ser
ENST00000637969.1:c.1393C>T ENSP00000490516.1:p.Pro465Ser
XM_011523313.1:c.1423C>T XP_011521615.1:p.Pro475Ser