Canonical Allele Identifier: CA405999336

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038060138
• MyVariant Identifiers: chr19:g.41847834G>C (hg19) ; chr19:g.41341929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341929G>C , CM000681.2:g.41341929G>C	GRCh38
NC_000019.9:g.41847834G>C , CM000681.1:g.41847834G>C	GRCh37
NC_000019.8:g.46539674G>C	NCBI36
NG_013364.1:g.16998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.814C>G MANE Select	ENSP00000221930.4:p.Gln272Glu
ENST00000600196.2:c.712+241C>G	ENSP00000504008.1:n.712+241C>G
ENST00000677934.1:c.634+2818C>G	ENSP00000504769.1:n.634+2818C>G
ENST00000221930.5:c.814C>G	ENSP00000221930.4:p.Gln272Glu
ENST00000598758.5:c.102C>G
ENST00000600196.1:n.172+241C>G
NM_000660.5:c.814C>G	NP_000651.3:p.Gln272Glu
XM_011527242.1:c.817C>G	XP_011525544.1:p.Gln273Glu
NM_000660.6:c.814C>G	NP_000651.3:p.Gln272Glu
XM_011527242.2:c.817C>G	XP_011525544.1:p.Gln273Glu
NM_000660.7:c.814C>G MANE Select	NP_000651.3:p.Gln272Glu