Canonical Allele Identifier: CA405999347
Gene: TGFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341934T>A , CM000681.2:g.41341934T>A GRCh38
NC_000019.9:g.41847839T>A , CM000681.1:g.41847839T>A GRCh37
NC_000019.8:g.46539679T>A NCBI36
NG_013364.1:g.16993A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.809A>T MANE Select ENSP00000221930.4:p.His270Leu
ENST00000600196.2:c.712+236A>T ENSP00000504008.1:n.712+236A>T
ENST00000677934.1:c.634+2813A>T ENSP00000504769.1:n.634+2813A>T
ENST00000221930.5:c.809A>T ENSP00000221930.4:p.His270Leu
ENST00000598758.5:c.97A>T
ENST00000600196.1:n.172+236A>T
NM_000660.5:c.809A>T NP_000651.3:p.His270Leu
XM_011527242.1:c.812A>T XP_011525544.1:p.His271Leu
NM_000660.6:c.809A>T NP_000651.3:p.His270Leu
XM_011527242.2:c.812A>T XP_011525544.1:p.His271Leu
NM_000660.7:c.809A>T MANE Select NP_000651.3:p.His270Leu