Canonical Allele Identifier: CA457628277

Gene: SMO

Linked Data

• dbSNP Id: rs2150653974
• gnomAD v4: 7-129210513-G-A
• COSMIC: COSM3778100
• MyVariant Identifiers: chr7:g.128850354G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210513G>A , CM000669.2:g.129210513G>A	GRCh38
NC_000007.13:g.128850354G>A , CM000669.1:g.128850354G>A	GRCh37
NC_000007.12:g.128637590G>A	NCBI36
NG_023340.1:g.26642G>A
NG_023340.2:g.26642G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249373.8:c.1617G>A MANE Select	ENSP00000249373.3:p.Lys539=
ENST00000655644.1:c.*1372G>A	ENSP00000499377.1:n.*1372G>A
ENST00000249373.7:c.1617G>A	ENSP00000249373.3:p.Lys539=
ENST00000462420.2:c.588G>A
ENST00000475779.1:c.6G>A	ENSP00000420749.1:p.Lys2=
NM_005631.4:c.1617G>A	NP_005622.1:p.Lys539=
XM_011516522.1:c.1227G>A	XP_011514824.1:p.Lys409=
XM_024446891.1:c.1227G>A	XP_024302659.1:p.Lys409=
NM_005631.5:c.1617G>A MANE Select	NP_005622.1:p.Lys539=