Canonical Allele Identifier: CA374230802

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1767316
• ClinVar RCV Id: RCV002374271
• MyVariant Identifiers: chr9:g.101904965T>C (hg19) ; chr9:g.99142683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142683T>C , CM000671.2:g.99142683T>C	GRCh38
NC_000009.11:g.101904965T>C , CM000671.1:g.101904965T>C	GRCh37
NC_000009.10:g.100944786T>C	NCBI36
NG_007461.1:g.42554T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.746T>C	ENSP00000449934.2:p.Met249Thr
ENST00000552573.7:c.758T>C	ENSP00000447182.3:p.Met253Thr
ENST00000548365.6:c.527T>C	ENSP00000448518.2:p.Met176Thr
ENST00000549021.6:c.515T>C	ENSP00000449028.2:p.Met172Thr
ENST00000698941.1:c.758T>C	ENSP00000514048.1:p.Met253Thr
ENST00000698942.1:c.*749T>C	ENSP00000514049.1:n.*749T>C
ENST00000374994.9:c.953T>C MANE Select	ENSP00000364133.4:p.Met318Thr
ENST00000374990.6:c.722T>C	ENSP00000364129.2:p.Met241Thr
ENST00000374994.8:c.953T>C	ENSP00000364133.4:p.Met318Thr
ENST00000549766.5:c.965T>C	ENSP00000446685.1:p.Met322Thr
ENST00000550253.1:c.746T>C	ENSP00000450052.1:p.Met249Thr
ENST00000552516.5:c.965T>C	ENSP00000447297.1:p.Met322Thr
NM_001130916.1:c.722T>C	NP_001124388.1:p.Met241Thr
NM_001130916.2:c.722T>C	NP_001124388.1:p.Met241Thr
NM_001306210.1:c.965T>C	NP_001293139.1:p.Met322Thr
NM_004612.2:c.953T>C	NP_004603.1:p.Met318Thr
NM_004612.3:c.953T>C	NP_004603.1:p.Met318Thr
XM_011518948.1:c.758T>C	XP_011517250.1:p.Met253Thr
XM_011518949.1:c.746T>C	XP_011517251.1:p.Met249Thr
XM_011518950.1:c.515T>C	XP_011517252.1:p.Met172Thr
XM_011518948.2:c.758T>C	XP_011517250.1:p.Met253Thr
XM_011518949.2:c.746T>C	XP_011517251.1:p.Met249Thr
XM_011518950.2:c.515T>C	XP_011517252.1:p.Met172Thr
XM_017015063.1:c.758T>C	XP_016870552.1:p.Met253Thr
XM_024447658.1:c.746T>C	XP_024303426.1:p.Met249Thr
NM_004612.4:c.953T>C MANE Select	NP_004603.1:p.Met318Thr
NM_001130916.3:c.722T>C	NP_001124388.1:p.Met241Thr
NM_001306210.2:c.965T>C	NP_001293139.1:p.Met322Thr