Canonical Allele Identifier: CA406005143
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41858672G>A (hg19) chr19:g.41352767G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352767G>A , CM000681.2:g.41352767G>A GRCh38
NC_000019.9:g.41858672G>A , CM000681.1:g.41858672G>A GRCh37
NC_000019.8:g.46550512G>A NCBI36
NG_013091.1:g.16407C>T
NG_013364.1:g.6160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.278C>T (TGFB1) MANE Select ENSP00000221930.4:p.Ala93Val
ENST00000600196.2:c.278C>T (TGFB1) ENSP00000504008.1:p.Ala93Val
ENST00000677934.1:c.278C>T (TGFB1) ENSP00000504769.1:p.Ala93Val
ENST00000221930.5:c.278C>T (TGFB1) ENSP00000221930.4:p.Ala93Val
ENST00000539627.5:c.-30+1565G>A (TMEM91) ENSP00000441900.1:n.-30+1565G>A
ENST00000604424.1:n.350+1565G>A
NM_000660.5:c.278C>T (TGFB1) NP_000651.3:p.Ala93Val
XM_011527242.1:c.278C>T (TGFB1) XP_011525544.1:p.Ala93Val
NM_000660.6:c.278C>T (TGFB1) NP_000651.3:p.Ala93Val
XM_011527242.2:c.278C>T (TGFB1) XP_011525544.1:p.Ala93Val
NM_000660.7:c.278C>T (TGFB1) MANE Select NP_000651.3:p.Ala93Val
Search 100 bp 5'
Search 100 bp 3'