Canonical Allele Identifier: CA406003567

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2840780
• ClinVar RCV Id: RCV003718690
• MyVariant Identifiers: chr19:g.41854231A>G (hg19) ; chr19:g.41348326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348326A>G , CM000681.2:g.41348326A>G	GRCh38
NC_000019.9:g.41854231A>G , CM000681.1:g.41854231A>G	GRCh37
NC_000019.8:g.46546071A>G	NCBI36
NG_013364.1:g.10601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.485T>C MANE Select	ENSP00000221930.4:p.Leu162Ser
ENST00000600196.2:c.485T>C	ENSP00000504008.1:p.Leu162Ser
ENST00000677934.1:c.485T>C	ENSP00000504769.1:p.Leu162Ser
ENST00000221930.5:c.485T>C	ENSP00000221930.4:p.Leu162Ser
ENST00000597453.1:n.16T>C
NM_000660.5:c.485T>C	NP_000651.3:p.Leu162Ser
XM_011527242.1:c.485T>C	XP_011525544.1:p.Leu162Ser
NM_000660.6:c.485T>C	NP_000651.3:p.Leu162Ser
XM_011527242.2:c.485T>C	XP_011525544.1:p.Leu162Ser
NM_000660.7:c.485T>C MANE Select	NP_000651.3:p.Leu162Ser