Canonical Allele Identifier: CA406005597

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs2038226996
• gnomAD v4: 19-41352843-C-A
• MyVariant Identifiers: chr19:g.41858748C>A (hg19) ; chr19:g.41352843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352843C>A , CM000681.2:g.41352843C>A	GRCh38
NC_000019.9:g.41858748C>A , CM000681.1:g.41858748C>A	GRCh37
NC_000019.8:g.46550588C>A	NCBI36
NG_013091.1:g.16331G>T
NG_013364.1:g.6084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.202G>T (TGFB1) MANE Select	ENSP00000221930.4:p.Val68Leu
ENST00000600196.2:c.202G>T (TGFB1)	ENSP00000504008.1:p.Val68Leu
ENST00000677934.1:c.202G>T (TGFB1)	ENSP00000504769.1:p.Val68Leu
ENST00000221930.5:c.202G>T (TGFB1)	ENSP00000221930.4:p.Val68Leu
ENST00000539627.5:c.-30+1641C>A (TMEM91)	ENSP00000441900.1:n.-30+1641C>A
ENST00000604424.1:n.350+1641C>A
NM_000660.5:c.202G>T (TGFB1)	NP_000651.3:p.Val68Leu
XM_011527242.1:c.202G>T (TGFB1)	XP_011525544.1:p.Val68Leu
NM_000660.6:c.202G>T (TGFB1)	NP_000651.3:p.Val68Leu
XM_011527242.2:c.202G>T (TGFB1)	XP_011525544.1:p.Val68Leu
NM_000660.7:c.202G>T (TGFB1) MANE Select	NP_000651.3:p.Val68Leu