Canonical Allele Identifier: CA369247158

Gene: SMO

Linked Data

• MyVariant Identifiers: chr7:g.128850352A>C (hg19) ; chr7:g.129210511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210511A>C , CM000669.2:g.129210511A>C	GRCh38
NC_000007.13:g.128850352A>C , CM000669.1:g.128850352A>C	GRCh37
NC_000007.12:g.128637588A>C	NCBI36
NG_023340.1:g.26640A>C
NG_023340.2:g.26640A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249373.8:c.1615A>C MANE Select	ENSP00000249373.3:p.Lys539Gln
ENST00000655644.1:c.*1370A>C	ENSP00000499377.1:n.*1370A>C
ENST00000249373.7:c.1615A>C	ENSP00000249373.3:p.Lys539Gln
ENST00000462420.2:c.586A>C
ENST00000475779.1:c.4A>C	ENSP00000420749.1:p.Lys2Gln
NM_005631.4:c.1615A>C	NP_005622.1:p.Lys539Gln
XM_011516522.1:c.1225A>C	XP_011514824.1:p.Lys409Gln
XM_024446891.1:c.1225A>C	XP_024302659.1:p.Lys409Gln
NM_005631.5:c.1615A>C MANE Select	NP_005622.1:p.Lys539Gln