Canonical Allele Identifier: CA369247117

Gene: SMO

Linked Data

• MyVariant Identifiers: chr7:g.128850343G>T (hg19) ; chr7:g.129210502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210502G>T , CM000669.2:g.129210502G>T	GRCh38
NC_000007.13:g.128850343G>T , CM000669.1:g.128850343G>T	GRCh37
NC_000007.12:g.128637579G>T	NCBI36
NG_023340.1:g.26631G>T
NG_023340.2:g.26631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1606G>T MANE Select	ENSP00000249373.3:p.Val536Phe
ENST00000655644.1:c.*1361G>T	ENSP00000499377.1:n.*1361G>T
ENST00000249373.7:c.1606G>T	ENSP00000249373.3:p.Val536Phe
ENST00000462420.2:c.577G>T
NM_005631.4:c.1606G>T	NP_005622.1:p.Val536Phe
XM_011516522.1:c.1216G>T	XP_011514824.1:p.Val406Phe
XM_024446891.1:c.1216G>T	XP_024302659.1:p.Val406Phe
NM_005631.5:c.1606G>T MANE Select	NP_005622.1:p.Val536Phe