Canonical Allele Identifier: CA406005356

Gene: TGFB1 TMEM91

Linked Data

• MyVariant Identifiers: chr19:g.41858717A>C (hg19) ; chr19:g.41352812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352812A>C , CM000681.2:g.41352812A>C	GRCh38
NC_000019.9:g.41858717A>C , CM000681.1:g.41858717A>C	GRCh37
NC_000019.8:g.46550557A>C	NCBI36
NG_013091.1:g.16362T>G
NG_013364.1:g.6115T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.233T>G (TGFB1) MANE Select	ENSP00000221930.4:p.Leu78Arg
ENST00000600196.2:c.233T>G (TGFB1)	ENSP00000504008.1:p.Leu78Arg
ENST00000677934.1:c.233T>G (TGFB1)	ENSP00000504769.1:p.Leu78Arg
ENST00000221930.5:c.233T>G (TGFB1)	ENSP00000221930.4:p.Leu78Arg
ENST00000539627.5:c.-30+1610A>C (TMEM91)	ENSP00000441900.1:n.-30+1610A>C
ENST00000604424.1:n.350+1610A>C
NM_000660.5:c.233T>G (TGFB1)	NP_000651.3:p.Leu78Arg
XM_011527242.1:c.233T>G (TGFB1)	XP_011525544.1:p.Leu78Arg
NM_000660.6:c.233T>G (TGFB1)	NP_000651.3:p.Leu78Arg
XM_011527242.2:c.233T>G (TGFB1)	XP_011525544.1:p.Leu78Arg
NM_000660.7:c.233T>G (TGFB1) MANE Select	NP_000651.3:p.Leu78Arg