Canonical Allele Identifier: CA405999361

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847842T>A (hg19) ; chr19:g.41341937T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341937T>A , CM000681.2:g.41341937T>A	GRCh38
NC_000019.9:g.41847842T>A , CM000681.1:g.41847842T>A	GRCh37
NC_000019.8:g.46539682T>A	NCBI36
NG_013364.1:g.16990A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.806A>T MANE Select	ENSP00000221930.4:p.Gln269Leu
ENST00000600196.2:c.712+233A>T	ENSP00000504008.1:n.712+233A>T
ENST00000677934.1:c.634+2810A>T	ENSP00000504769.1:n.634+2810A>T
ENST00000221930.5:c.806A>T	ENSP00000221930.4:p.Gln269Leu
ENST00000598758.5:c.94A>T
ENST00000600196.1:n.172+233A>T
NM_000660.5:c.806A>T	NP_000651.3:p.Gln269Leu
XM_011527242.1:c.809A>T	XP_011525544.1:p.Gln270Leu
NM_000660.6:c.806A>T	NP_000651.3:p.Gln269Leu
XM_011527242.2:c.809A>T	XP_011525544.1:p.Gln270Leu
NM_000660.7:c.806A>T MANE Select	NP_000651.3:p.Gln269Leu