Canonical Allele Identifier: CA119302
Gene: SMO HGNC NCBI

Linked Data

ClinVar Variation Id: 8117
ClinVar RCV Id: RCV000008586
dbSNP Id: rs121918347
COSMIC: COSM13146
MyVariant Identifiers: chr7:g.128850341G>T (hg19) chr7:g.129210500G>T (hg38)
CIViC: CA119302
PubMed: PMID:9422511
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210500G>T , CM000669.2:g.129210500G>T GRCh38
NC_000007.13:g.128850341G>T , CM000669.1:g.128850341G>T GRCh37
NC_000007.12:g.128637577G>T NCBI36
NG_023340.1:g.26629G>T
NG_023340.2:g.26629G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.1604G>T MANE Select ENSP00000249373.3:p.Trp535Leu
ENST00000655644.1:c.*1359G>T ENSP00000499377.1:n.*1359G>T
ENST00000249373.7:c.1604G>T ENSP00000249373.3:p.Trp535Leu
ENST00000462420.2:c.575G>T
NM_005631.4:c.1604G>T NP_005622.1:p.Trp535Leu
XM_011516522.1:c.1214G>T XP_011514824.1:p.Trp405Leu
XM_024446891.1:c.1214G>T XP_024302659.1:p.Trp405Leu
NM_005631.5:c.1604G>T MANE Select NP_005622.1:p.Trp535Leu
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