Canonical Allele Identifier: CA405999322

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038059975
• MyVariant Identifiers: chr19:g.41847828A>G (hg19) ; chr19:g.41341923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341923A>G , CM000681.2:g.41341923A>G	GRCh38
NC_000019.9:g.41847828A>G , CM000681.1:g.41847828A>G	GRCh37
NC_000019.8:g.46539668A>G	NCBI36
NG_013364.1:g.17004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.820T>C MANE Select	ENSP00000221930.4:p.Ser274Pro
ENST00000600196.2:c.712+247T>C	ENSP00000504008.1:n.712+247T>C
ENST00000677934.1:c.634+2824T>C	ENSP00000504769.1:n.634+2824T>C
ENST00000221930.5:c.820T>C	ENSP00000221930.4:p.Ser274Pro
ENST00000598758.5:c.108T>C
ENST00000600196.1:n.172+247T>C
NM_000660.5:c.820T>C	NP_000651.3:p.Ser274Pro
XM_011527242.1:c.823T>C	XP_011525544.1:p.Ser275Pro
NM_000660.6:c.820T>C	NP_000651.3:p.Ser274Pro
XM_011527242.2:c.823T>C	XP_011525544.1:p.Ser275Pro
NM_000660.7:c.820T>C MANE Select	NP_000651.3:p.Ser274Pro