Canonical Allele Identifier: CA321749

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 213875
• ClinVar RCV Id: RCV000197297 ; RCV000507920 ; RCV002363012
• dbSNP Id: rs863223812
• MyVariant Identifiers: chr9:g.101900273C>T (hg19) ; chr9:g.99137991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137991C>T , CM000671.2:g.99137991C>T	GRCh38
NC_000009.11:g.101900273C>T , CM000671.1:g.101900273C>T	GRCh37
NC_000009.10:g.100940094C>T	NCBI36
NG_007461.1:g.37862C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.500C>T	ENSP00000449934.2:p.Ser167Phe
ENST00000552573.7:c.512C>T	ENSP00000447182.3:p.Ser171Phe
ENST00000548365.6:c.380-4545C>T	ENSP00000448518.2:n.380-4545C>T
ENST00000549021.6:c.269C>T	ENSP00000449028.2:p.Ser90Phe
ENST00000698941.1:c.512C>T	ENSP00000514048.1:p.Ser171Phe
ENST00000698942.1:c.*503C>T	ENSP00000514049.1:n.*503C>T
ENST00000374994.9:c.707C>T MANE Select	ENSP00000364133.4:p.Ser236Phe
ENST00000374990.6:c.476C>T	ENSP00000364129.2:p.Ser159Phe
ENST00000374994.8:c.707C>T	ENSP00000364133.4:p.Ser236Phe
ENST00000549021.5:c.269C>T	ENSP00000449028.1:p.Ser90Phe
ENST00000549766.5:c.719C>T	ENSP00000446685.1:p.Ser240Phe
ENST00000550253.1:c.500C>T	ENSP00000450052.1:p.Ser167Phe
ENST00000552516.5:c.719C>T	ENSP00000447297.1:p.Ser240Phe
NM_001130916.1:c.476C>T	NP_001124388.1:p.Ser159Phe
NM_001130916.2:c.476C>T	NP_001124388.1:p.Ser159Phe
NM_001306210.1:c.719C>T	NP_001293139.1:p.Ser240Phe
NM_004612.2:c.707C>T	NP_004603.1:p.Ser236Phe
NM_004612.3:c.707C>T	NP_004603.1:p.Ser236Phe
XM_011518948.1:c.512C>T	XP_011517250.1:p.Ser171Phe
XM_011518949.1:c.500C>T	XP_011517251.1:p.Ser167Phe
XM_011518950.1:c.269C>T	XP_011517252.1:p.Ser90Phe
XM_011518948.2:c.512C>T	XP_011517250.1:p.Ser171Phe
XM_011518949.2:c.500C>T	XP_011517251.1:p.Ser167Phe
XM_011518950.2:c.269C>T	XP_011517252.1:p.Ser90Phe
XM_017015063.1:c.512C>T	XP_016870552.1:p.Ser171Phe
XM_024447658.1:c.500C>T	XP_024303426.1:p.Ser167Phe
NM_004612.4:c.707C>T MANE Select	NP_004603.1:p.Ser236Phe
NM_001130916.3:c.476C>T	NP_001124388.1:p.Ser159Phe
NM_001306210.2:c.719C>T	NP_001293139.1:p.Ser240Phe