Canonical Allele Identifier: CA406000052

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41848137A>G (hg19) ; chr19:g.41342232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342232A>G , CM000681.2:g.41342232A>G	GRCh38
NC_000019.9:g.41848137A>G , CM000681.1:g.41848137A>G	GRCh37
NC_000019.8:g.46539977A>G	NCBI36
NG_013364.1:g.16695T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.650T>C MANE Select	ENSP00000221930.4:p.Phe217Ser
ENST00000600196.2:c.650T>C	ENSP00000504008.1:p.Phe217Ser
ENST00000677934.1:c.634+2515T>C	ENSP00000504769.1:n.634+2515T>C
ENST00000221930.5:c.650T>C	ENSP00000221930.4:p.Phe217Ser
ENST00000597453.1:n.181T>C
ENST00000600196.1:n.110T>C
NM_000660.5:c.650T>C	NP_000651.3:p.Phe217Ser
XM_011527242.1:c.650T>C	XP_011525544.1:p.Phe217Ser
NM_000660.6:c.650T>C	NP_000651.3:p.Phe217Ser
XM_011527242.2:c.650T>C	XP_011525544.1:p.Phe217Ser
NM_000660.7:c.650T>C MANE Select	NP_000651.3:p.Phe217Ser