Canonical Allele Identifier: CA405999287
Gene: TGFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341905G>T , CM000681.2:g.41341905G>T GRCh38
NC_000019.9:g.41847810G>T , CM000681.1:g.41847810G>T GRCh37
NC_000019.8:g.46539650G>T NCBI36
NG_013364.1:g.17022C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.838C>A MANE Select ENSP00000221930.4:p.Leu280Met
ENST00000600196.2:c.712+265C>A ENSP00000504008.1:n.712+265C>A
ENST00000677934.1:c.634+2842C>A ENSP00000504769.1:n.634+2842C>A
ENST00000221930.5:c.838C>A ENSP00000221930.4:p.Leu280Met
ENST00000598758.5:c.126C>A
ENST00000600196.1:n.172+265C>A
NM_000660.5:c.838C>A NP_000651.3:p.Leu280Met
XM_011527242.1:c.841C>A XP_011525544.1:p.Leu281Met
NM_000660.6:c.838C>A NP_000651.3:p.Leu280Met
XM_011527242.2:c.841C>A XP_011525544.1:p.Leu281Met
NM_000660.7:c.838C>A MANE Select NP_000651.3:p.Leu280Met