Canonical Allele Identifier: CA507689932
Gene: TGFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41847853C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341948C>G , CM000681.2:g.41341948C>G GRCh38
NC_000019.9:g.41847853C>G , CM000681.1:g.41847853C>G GRCh37
NC_000019.8:g.46539693C>G NCBI36
NG_013364.1:g.16979G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.795G>C MANE Select ENSP00000221930.4:p.Leu265=
ENST00000600196.2:c.712+222G>C ENSP00000504008.1:n.712+222G>C
ENST00000677934.1:c.634+2799G>C ENSP00000504769.1:n.634+2799G>C
ENST00000221930.5:c.795G>C ENSP00000221930.4:p.Leu265=
ENST00000598758.5:c.83G>C
ENST00000600196.1:n.172+222G>C
NM_000660.5:c.795G>C NP_000651.3:p.Leu265=
XM_011527242.1:c.798G>C XP_011525544.1:p.Leu266=
NM_000660.6:c.795G>C NP_000651.3:p.Leu265=
XM_011527242.2:c.798G>C XP_011525544.1:p.Leu266=
NM_000660.7:c.795G>C MANE Select NP_000651.3:p.Leu265=