Canonical Allele Identifier: CA507689718

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 2094809
• ClinVar RCV Id: RCV003010435
• dbSNP Id: rs2038222572
• MyVariant Identifiers: chr19:g.41858596G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352691G>A , CM000681.2:g.41352691G>A	GRCh38
NC_000019.9:g.41858596G>A , CM000681.1:g.41858596G>A	GRCh37
NC_000019.8:g.46550436G>A	NCBI36
NG_013091.1:g.16483C>T
NG_013364.1:g.6236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.354C>T (TGFB1) MANE Select	ENSP00000221930.4:p.Asn118=
ENST00000600196.2:c.354C>T (TGFB1)	ENSP00000504008.1:p.Asn118=
ENST00000677934.1:c.354C>T (TGFB1)	ENSP00000504769.1:p.Asn118=
ENST00000221930.5:c.354C>T (TGFB1)	ENSP00000221930.4:p.Asn118=
ENST00000539627.5:c.-30+1489G>A (TMEM91)	ENSP00000441900.1:n.-30+1489G>A
ENST00000604424.1:n.350+1489G>A
NM_000660.5:c.354C>T (TGFB1)	NP_000651.3:p.Asn118=
XM_011527242.1:c.354C>T (TGFB1)	XP_011525544.1:p.Asn118=
NM_000660.6:c.354C>T (TGFB1)	NP_000651.3:p.Asn118=
XM_011527242.2:c.354C>T (TGFB1)	XP_011525544.1:p.Asn118=
NM_000660.7:c.354C>T (TGFB1) MANE Select	NP_000651.3:p.Asn118=