Canonical Allele Identifier: CA214433

Gene: SMAD1 SMAD1-AS1

Linked Data

• ClinVar Variation Id: 60478
• ClinVar RCV Id: RCV000054384 ; RCV000488453
• dbSNP Id: rs587777018
• gnomAD v4: 4-145514621-T-C
• MyVariant Identifiers: chr4:g.146435773T>C (hg19) ; chr4:g.145514621T>C (hg38)
• PubMed: PMID:21898662 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145514621T>C , CM000666.2:g.145514621T>C	GRCh38
NC_000004.11:g.146435773T>C , CM000666.1:g.146435773T>C	GRCh37
NC_000004.10:g.146655223T>C	NCBI36
NG_042284.1:g.37823T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302085.9:c.8T>C (SMAD1) MANE Select	ENSP00000305769.4:p.Val3Ala
ENST00000302085.8:c.8T>C (SMAD1)	ENSP00000305769.4:p.Val3Ala
ENST00000394092.6:c.8T>C (SMAD1)	ENSP00000377652.2:p.Val3Ala
ENST00000503324.1:c.8T>C (SMAD1)	ENSP00000422706.1:p.Val3Ala
ENST00000506626.1:n.436T>C (SMAD1)
ENST00000507367.1:c.8T>C (SMAD1)	ENSP00000421601.1:p.Val3Ala
ENST00000507594.1:c.8T>C (SMAD1)	ENSP00000424649.1:p.Val3Ala
ENST00000512019.1:c.8T>C (SMAD1)	ENSP00000427002.1:p.Val3Ala
ENST00000514778.1:c.8T>C (SMAD1)	ENSP00000424959.1:p.Val3Ala
ENST00000514831.1:c.8T>C (SMAD1)	ENSP00000425270.1:p.Val3Ala
ENST00000515385.1:c.8T>C (SMAD1)	ENSP00000426568.1:p.Val3Ala
ENST00000515527.1:n.507T>C (SMAD1)
NM_001003688.1:c.8T>C (SMAD1)	NP_001003688.1:p.Val3Ala
NM_005900.2:c.8T>C (SMAD1)	NP_005891.1:p.Val3Ala
NR_126371.1:n.551A>G (SMAD1-AS1)
XM_005262991.2:c.8T>C (SMAD1)	XP_005263048.1:p.Val3Ala
XM_005262992.3:c.8T>C (SMAD1)	XP_005263049.1:p.Val3Ala
XM_005262993.3:c.8T>C (SMAD1)	XP_005263050.1:p.Val3Ala
XM_006714217.2:c.8T>C (SMAD1)	XP_006714280.1:p.Val3Ala
XM_011531961.1:c.8T>C (SMAD1)	XP_011530263.1:p.Val3Ala
XM_011531962.1:c.8T>C (SMAD1)	XP_011530264.1:p.Val3Ala
XM_011531963.1:c.8T>C (SMAD1)	XP_011530265.1:p.Val3Ala
XM_011531964.1:c.8T>C (SMAD1)	XP_011530266.1:p.Val3Ala
NM_001354811.1:c.8T>C (SMAD1)	NP_001341740.1:p.Val3Ala
NM_001354812.1:c.8T>C (SMAD1)	NP_001341741.1:p.Val3Ala
NM_001354813.1:c.8T>C (SMAD1)	NP_001341742.1:p.Val3Ala
NM_001354814.1:c.8T>C (SMAD1)	NP_001341743.1:p.Val3Ala
NM_001354816.1:c.8T>C (SMAD1)	NP_001341745.1:p.Val3Ala
NM_001354817.1:c.8T>C (SMAD1)	NP_001341746.1:p.Val3Ala
XM_011531962.2:c.8T>C (SMAD1)	XP_011530264.1:p.Val3Ala
XM_011531964.2:c.8T>C (SMAD1)	XP_011530266.1:p.Val3Ala
NM_005900.3:c.8T>C (SMAD1) MANE Select	NP_005891.1:p.Val3Ala