Canonical Allele Identifier: CA374223565

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105246T>C , CM000671.2:g.99105246T>C	GRCh38
NC_000009.11:g.101867528T>C , CM000671.1:g.101867528T>C	GRCh37
NC_000009.10:g.100907349T>C	NCBI36
NG_007461.1:g.5117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1140T>C	ENSP00000449934.2:n.-111+1140T>C
ENST00000552573.7:c.-111+1140T>C	ENSP00000447182.3:n.-111+1140T>C
ENST00000698941.1:c.-111+121T>C	ENSP00000514048.1:n.-111+121T>C
ENST00000374994.9:c.41T>C MANE Select	ENSP00000364133.4:p.Leu14Pro
ENST00000374990.6:c.41T>C	ENSP00000364129.2:p.Leu14Pro
ENST00000374994.8:c.41T>C	ENSP00000364133.4:p.Leu14Pro
ENST00000547314.5:c.-111+1140T>C	ENSP00000449934.1:n.-111+1140T>C
ENST00000549766.5:c.41T>C	ENSP00000446685.1:p.Leu14Pro
ENST00000552516.5:c.41T>C	ENSP00000447297.1:p.Leu14Pro
ENST00000552573.6:c.-111+1140T>C	ENSP00000447182.2:n.-111+1140T>C
NM_001130916.1:c.41T>C	NP_001124388.1:p.Leu14Pro
NM_001130916.2:c.41T>C	NP_001124388.1:p.Leu14Pro
NM_001306210.1:c.41T>C	NP_001293139.1:p.Leu14Pro
NM_004612.2:c.41T>C	NP_004603.1:p.Leu14Pro
NM_004612.3:c.41T>C	NP_004603.1:p.Leu14Pro
XM_011518949.1:c.-111+1140T>C	XP_011517251.1:n.-111+1140T>C
XM_011518949.2:c.-111+1140T>C	XP_011517251.1:n.-111+1140T>C
XM_017015063.1:c.-111+121T>C	XP_016870552.1:n.-111+121T>C
NM_004612.4:c.41T>C MANE Select	NP_004603.1:p.Leu14Pro
NM_001130916.3:c.41T>C	NP_001124388.1:p.Leu14Pro
NM_001306210.2:c.41T>C	NP_001293139.1:p.Leu14Pro