Canonical Allele Identifier: CA405998667

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41838163A>G (hg19) ; chr19:g.41332258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332258A>G , CM000681.2:g.41332258A>G	GRCh38
NC_000019.9:g.41838163A>G , CM000681.1:g.41838163A>G	GRCh37
NC_000019.8:g.46530003A>G	NCBI36
NG_013364.1:g.26669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.884T>C MANE Select	ENSP00000221930.4:p.Val295Ala
ENST00000600196.2:c.736T>C	ENSP00000504008.1:p.Cys246Arg
ENST00000677934.1:c.658T>C	ENSP00000504769.1:p.Cys220Arg
ENST00000221930.5:c.884T>C	ENSP00000221930.4:p.Val295Ala
ENST00000598758.5:c.172T>C
ENST00000600196.1:n.196T>C
NM_000660.5:c.884T>C	NP_000651.3:p.Val295Ala
XM_011527242.1:c.887T>C	XP_011525544.1:p.Val296Ala
NM_000660.6:c.884T>C	NP_000651.3:p.Val295Ala
XM_011527242.2:c.887T>C	XP_011525544.1:p.Val296Ala
NM_000660.7:c.884T>C MANE Select	NP_000651.3:p.Val295Ala