Canonical Allele Identifier: CA405998761

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41838186G>T (hg19) ; chr19:g.41332281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332281G>T , CM000681.2:g.41332281G>T	GRCh38
NC_000019.9:g.41838186G>T , CM000681.1:g.41838186G>T	GRCh37
NC_000019.8:g.46530026G>T	NCBI36
NG_013364.1:g.26646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861C>A MANE Select	ENSP00000221930.4:p.Ser287Arg
ENST00000600196.2:c.713C>A	ENSP00000504008.1:p.Ala238Asp
ENST00000677934.1:c.635C>A	ENSP00000504769.1:p.Ala212Asp
ENST00000221930.5:c.861C>A	ENSP00000221930.4:p.Ser287Arg
ENST00000598758.5:c.149C>A
ENST00000600196.1:n.173C>A
NM_000660.5:c.861C>A	NP_000651.3:p.Ser287Arg
XM_011527242.1:c.864C>A	XP_011525544.1:p.Ser288Arg
NM_000660.6:c.861C>A	NP_000651.3:p.Ser287Arg
XM_011527242.2:c.864C>A	XP_011525544.1:p.Ser288Arg
NM_000660.7:c.861C>A MANE Select	NP_000651.3:p.Ser287Arg