Canonical Allele Identifier: CA405997642
Community Standard Title: NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)
Gene: TGFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41331066A>G , CM000681.2:g.41331066A>G GRCh38
NC_000019.9:g.41836971A>G , CM000681.1:g.41836971A>G GRCh37
NC_000019.8:g.46528811A>G NCBI36
NG_013364.1:g.27861T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000660.7:c.1159T>C MANE Select NP_000651.3:p.Cys387Arg
ENST00000221930.6:c.1159T>C MANE Select ENSP00000221930.4:p.Cys387Arg
NM_000660.5:c.1159T>C NP_000651.3:p.Cys387Arg
NM_000660.6:c.1159T>C NP_000651.3:p.Cys387Arg
ENST00000221930.5:c.1159T>C ENSP00000221930.4:p.Cys387Arg
ENST00000598758.5:c.302+1062T>C
ENST00000600196.2:c.1099T>C ENSP00000504008.1:p.Cys367Arg
ENST00000677934.1:c.933T>C ENSP00000504769.1:n.933T>C
XM_011527242.1:c.1162T>C XP_011525544.1:p.Cys388Arg
XM_011527242.2:c.1162T>C XP_011525544.1:p.Cys388Arg