Canonical Allele Identifier: CA369247164

Gene: SMO

Linked Data

• MyVariant Identifiers: chr7:g.128850353A>C (hg19) ; chr7:g.129210512A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210512A>C , CM000669.2:g.129210512A>C	GRCh38
NC_000007.13:g.128850353A>C , CM000669.1:g.128850353A>C	GRCh37
NC_000007.12:g.128637589A>C	NCBI36
NG_023340.1:g.26641A>C
NG_023340.2:g.26641A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249373.8:c.1616A>C MANE Select	ENSP00000249373.3:p.Lys539Thr
ENST00000655644.1:c.*1371A>C	ENSP00000499377.1:n.*1371A>C
ENST00000249373.7:c.1616A>C	ENSP00000249373.3:p.Lys539Thr
ENST00000462420.2:c.587A>C
ENST00000475779.1:c.5A>C	ENSP00000420749.1:p.Lys2Thr
NM_005631.4:c.1616A>C	NP_005622.1:p.Lys539Thr
XM_011516522.1:c.1226A>C	XP_011514824.1:p.Lys409Thr
XM_024446891.1:c.1226A>C	XP_024302659.1:p.Lys409Thr
NM_005631.5:c.1616A>C MANE Select	NP_005622.1:p.Lys539Thr