Canonical Allele Identifier: CA374230805

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904966G>C (hg19) ; chr9:g.99142684G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142684G>C , CM000671.2:g.99142684G>C	GRCh38
NC_000009.11:g.101904966G>C , CM000671.1:g.101904966G>C	GRCh37
NC_000009.10:g.100944787G>C	NCBI36
NG_007461.1:g.42555G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.747G>C	ENSP00000449934.2:p.Met249Ile
ENST00000552573.7:c.759G>C	ENSP00000447182.3:p.Met253Ile
ENST00000548365.6:c.528G>C	ENSP00000448518.2:p.Met176Ile
ENST00000549021.6:c.516G>C	ENSP00000449028.2:p.Met172Ile
ENST00000698941.1:c.759G>C	ENSP00000514048.1:p.Met253Ile
ENST00000698942.1:c.*750G>C	ENSP00000514049.1:n.*750G>C
ENST00000374994.9:c.954G>C MANE Select	ENSP00000364133.4:p.Met318Ile
ENST00000374990.6:c.723G>C	ENSP00000364129.2:p.Met241Ile
ENST00000374994.8:c.954G>C	ENSP00000364133.4:p.Met318Ile
ENST00000549766.5:c.966G>C	ENSP00000446685.1:p.Met322Ile
ENST00000550253.1:c.747G>C	ENSP00000450052.1:p.Met249Ile
ENST00000552516.5:c.966G>C	ENSP00000447297.1:p.Met322Ile
NM_001130916.1:c.723G>C	NP_001124388.1:p.Met241Ile
NM_001130916.2:c.723G>C	NP_001124388.1:p.Met241Ile
NM_001306210.1:c.966G>C	NP_001293139.1:p.Met322Ile
NM_004612.2:c.954G>C	NP_004603.1:p.Met318Ile
NM_004612.3:c.954G>C	NP_004603.1:p.Met318Ile
XM_011518948.1:c.759G>C	XP_011517250.1:p.Met253Ile
XM_011518949.1:c.747G>C	XP_011517251.1:p.Met249Ile
XM_011518950.1:c.516G>C	XP_011517252.1:p.Met172Ile
XM_011518948.2:c.759G>C	XP_011517250.1:p.Met253Ile
XM_011518949.2:c.747G>C	XP_011517251.1:p.Met249Ile
XM_011518950.2:c.516G>C	XP_011517252.1:p.Met172Ile
XM_017015063.1:c.759G>C	XP_016870552.1:p.Met253Ile
XM_024447658.1:c.747G>C	XP_024303426.1:p.Met249Ile
NM_004612.4:c.954G>C MANE Select	NP_004603.1:p.Met318Ile
NM_001130916.3:c.723G>C	NP_001124388.1:p.Met241Ile
NM_001306210.2:c.966G>C	NP_001293139.1:p.Met322Ile