Canonical Allele Identifier: CA395748223

Gene: TGFB1I1

Linked Data

• MyVariant Identifiers: chr16:g.31488224T>C (hg19) ; chr16:g.31476903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31476903T>C , CM000678.2:g.31476903T>C	GRCh38
NC_000016.9:g.31488224T>C , CM000678.1:g.31488224T>C	GRCh37
NC_000016.8:g.31395725T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394863.8:c.1012T>C MANE Select	ENSP00000378332.3:p.Phe338Leu
ENST00000361773.7:c.961T>C	ENSP00000355117.3:p.Phe321Leu
ENST00000394858.6:c.961T>C	ENSP00000378327.2:p.Phe321Leu
ENST00000394863.7:c.1012T>C	ENSP00000378332.3:p.Phe338Leu
ENST00000563712.6:c.*683T>C	ENSP00000459283.1:n.*683T>C
ENST00000564176.5:n.4217T>C
ENST00000564804.1:c.*528T>C	ENSP00000454688.1:n.*528T>C
ENST00000567066.6:c.*737T>C	ENSP00000456341.2:n.*737T>C
ENST00000567607.5:c.961T>C	ENSP00000457586.1:p.Phe321Leu
NM_001042454.2:c.1012T>C	NP_001035919.1:p.Phe338Leu
NM_001164719.1:c.961T>C	NP_001158191.1:p.Phe321Leu
NM_015927.4:c.961T>C	NP_057011.2:p.Phe321Leu
XM_024450412.1:c.961T>C	XP_024306180.1:p.Phe321Leu
NM_001042454.3:c.1012T>C MANE Select	NP_001035919.1:p.Phe338Leu
NM_015927.5:c.961T>C	NP_057011.2:p.Phe321Leu