Canonical Allele Identifier: CA507689698
Gene: TGFB1 HGNC NCBI

Linked Data

COSMIC: COSM997012
MyVariant Identifiers: chr19:g.41848115G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342210G>T , CM000681.2:g.41342210G>T GRCh38
NC_000019.9:g.41848115G>T , CM000681.1:g.41848115G>T GRCh37
NC_000019.8:g.46539955G>T NCBI36
NG_013364.1:g.16717C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.672C>A MANE Select ENSP00000221930.4:p.Ser224=
ENST00000600196.2:c.672C>A ENSP00000504008.1:p.Ser224=
ENST00000677934.1:c.634+2537C>A ENSP00000504769.1:n.634+2537C>A
ENST00000221930.5:c.672C>A ENSP00000221930.4:p.Ser224=
ENST00000597453.1:n.203C>A
ENST00000600196.1:n.132C>A
NM_000660.5:c.672C>A NP_000651.3:p.Ser224=
XM_011527242.1:c.672C>A XP_011525544.1:p.Ser224=
NM_000660.6:c.672C>A NP_000651.3:p.Ser224=
XM_011527242.2:c.672C>A XP_011525544.1:p.Ser224=
NM_000660.7:c.672C>A MANE Select NP_000651.3:p.Ser224=