Canonical Allele Identifier: CA395748233
Gene: TGFB1I1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31476905C>A , CM000678.2:g.31476905C>A GRCh38
NC_000016.9:g.31488226C>A , CM000678.1:g.31488226C>A GRCh37
NC_000016.8:g.31395727C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394863.8:c.1014C>A MANE Select ENSP00000378332.3:p.Phe338Leu
ENST00000361773.7:c.963C>A ENSP00000355117.3:p.Phe321Leu
ENST00000394858.6:c.963C>A ENSP00000378327.2:p.Phe321Leu
ENST00000394863.7:c.1014C>A ENSP00000378332.3:p.Phe338Leu
ENST00000563712.6:c.*685C>A ENSP00000459283.1:n.*685C>A
ENST00000564176.5:n.4219C>A
ENST00000564804.1:c.*530C>A ENSP00000454688.1:n.*530C>A
ENST00000567066.6:c.*739C>A ENSP00000456341.2:n.*739C>A
ENST00000567607.5:c.963C>A ENSP00000457586.1:p.Phe321Leu
NM_001042454.2:c.1014C>A NP_001035919.1:p.Phe338Leu
NM_001164719.1:c.963C>A NP_001158191.1:p.Phe321Leu
NM_015927.4:c.963C>A NP_057011.2:p.Phe321Leu
XM_024450412.1:c.963C>A XP_024306180.1:p.Phe321Leu
NM_001042454.3:c.1014C>A MANE Select NP_001035919.1:p.Phe338Leu
NM_015927.5:c.963C>A NP_057011.2:p.Phe321Leu