Canonical Allele Identifier: CA374230202

Gene: TGFBR1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99138042T>A , CM000671.2:g.99138042T>A	GRCh38
NC_000009.11:g.101900324T>A , CM000671.1:g.101900324T>A	GRCh37
NC_000009.10:g.100940145T>A	NCBI36
NG_007461.1:g.37913T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.551T>A	ENSP00000449934.2:p.Met184Lys
ENST00000552573.7:c.563T>A	ENSP00000447182.3:p.Met188Lys
ENST00000548365.6:c.380-4494T>A	ENSP00000448518.2:n.380-4494T>A
ENST00000549021.6:c.320T>A	ENSP00000449028.2:p.Met107Lys
ENST00000698941.1:c.563T>A	ENSP00000514048.1:p.Met188Lys
ENST00000698942.1:c.*554T>A	ENSP00000514049.1:n.*554T>A
ENST00000374994.9:c.758T>A MANE Select	ENSP00000364133.4:p.Met253Lys
ENST00000374990.6:c.527T>A	ENSP00000364129.2:p.Met176Lys
ENST00000374994.8:c.758T>A	ENSP00000364133.4:p.Met253Lys
ENST00000549021.5:c.320T>A	ENSP00000449028.1:p.Met107Lys
ENST00000549766.5:c.770T>A	ENSP00000446685.1:p.Met257Lys
ENST00000550253.1:c.551T>A	ENSP00000450052.1:p.Met184Lys
ENST00000552516.5:c.770T>A	ENSP00000447297.1:p.Met257Lys
NM_001130916.1:c.527T>A	NP_001124388.1:p.Met176Lys
NM_001130916.2:c.527T>A	NP_001124388.1:p.Met176Lys
NM_001306210.1:c.770T>A	NP_001293139.1:p.Met257Lys
NM_004612.2:c.758T>A	NP_004603.1:p.Met253Lys
NM_004612.3:c.758T>A	NP_004603.1:p.Met253Lys
XM_011518948.1:c.563T>A	XP_011517250.1:p.Met188Lys
XM_011518949.1:c.551T>A	XP_011517251.1:p.Met184Lys
XM_011518950.1:c.320T>A	XP_011517252.1:p.Met107Lys
XM_011518948.2:c.563T>A	XP_011517250.1:p.Met188Lys
XM_011518949.2:c.551T>A	XP_011517251.1:p.Met184Lys
XM_011518950.2:c.320T>A	XP_011517252.1:p.Met107Lys
XM_017015063.1:c.563T>A	XP_016870552.1:p.Met188Lys
XM_024447658.1:c.551T>A	XP_024303426.1:p.Met184Lys
NM_004612.4:c.758T>A MANE Select	NP_004603.1:p.Met253Lys
NM_001130916.3:c.527T>A	NP_001124388.1:p.Met176Lys
NM_001306210.2:c.770T>A	NP_001293139.1:p.Met257Lys