Canonical Allele Identifier: CA122449
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

ClinVar Variation Id: 12534
dbSNP Id: rs1800470

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353016G>A , CM000681.2:g.41353016G>A GRCh38
NC_000019.9:g.41858921G>A , CM000681.1:g.41858921G>A GRCh37
NC_000019.8:g.46550761G>A NCBI36
NG_013091.1:g.16158C>T
NG_013364.1:g.5911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.29C>T (TGFB1) MANE Select ENSP00000221930.4:p.Pro10Leu
ENST00000600196.2:c.29C>T (TGFB1) ENSP00000504008.1:p.Pro10Leu
ENST00000677934.1:c.29C>T (TGFB1) ENSP00000504769.1:p.Pro10Leu
ENST00000221930.5:c.29C>T (TGFB1) ENSP00000221930.4:p.Pro10Leu
ENST00000539627.5:c.-30+1814G>A (TMEM91) ENSP00000441900.1:n.-30+1814G>A
ENST00000604424.1:n.350+1814G>A
NM_000660.5:c.29C>T (TGFB1) NP_000651.3:p.Pro10Leu
XM_011527242.1:c.29C>T (TGFB1) XP_011525544.1:p.Pro10Leu
NM_000660.6:c.29C>T (TGFB1) NP_000651.3:p.Pro10Leu
XM_011527242.2:c.29C>T (TGFB1) XP_011525544.1:p.Pro10Leu
NM_000660.7:c.29C>T (TGFB1) MANE Select NP_000651.3:p.Pro10Leu