Canonical Allele Identifier: CA597263895

Gene: SMPD1

Linked Data

• gnomAD v2: 11-6413718-T-TC
• MyVariant Identifiers: chr11:g.6413718_6413719insC (hg19) ; chr11:g.6392488_6392489insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392488_6392489insC , CM000673.2:g.6392488_6392489insC	GRCh38
NC_000011.9:g.6413718_6413719insC , CM000673.1:g.6413718_6413719insC	GRCh37
NC_000011.8:g.6370294_6370295insC	NCBI36
NG_011780.1:g.7064_7065insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+332_1091+333insC MANE Select	ENSP00000340409.4:n.1091+332_1091+333insC
ENST00000342245.8:c.1091+332_1091+333insC	ENSP00000340409.4:n.1091+332_1091+333insC
ENST00000526280.1:c.320+292_320+293insC
ENST00000527275.5:c.1088+332_1088+333insC	ENSP00000435350.1:n.1088+332_1088+333insC
ENST00000531303.5:c.439-728_439-727insC	ENSP00000432625.1:n.439-728_439-727insC
ENST00000533123.5:c.1091+332_1091+333insC	ENSP00000435950.1:n.1091+332_1091+333insC
ENST00000534405.5:c.1131+292_1131+293insC	ENSP00000434353.1:n.1131+292_1131+293insC
NM_000543.4:c.1091+332_1091+333insC	NP_000534.3:n.1091+332_1091+333insC
NM_001007593.2:c.1088+332_1088+333insC	NP_001007594.2:n.1088+332_1088+333insC
XM_005253075.3:c.1091+332_1091+333insC	XP_005253132.1:n.1091+332_1091+333insC
XM_011520303.1:c.1131+292_1131+293insC	XP_011518605.1:n.1131+292_1131+293insC
XM_011520304.1:c.1131+292_1131+293insC	XP_011518606.1:n.1131+292_1131+293insC
XR_930886.1:n.1429+292_1429+293insC
NM_001318087.1:c.1091+332_1091+333insC	NP_001305016.1:n.1091+332_1091+333insC
NM_001318088.1:c.170+292_170+293insC	NP_001305017.1:n.170+292_170+293insC
NM_001365135.1:c.1131+292_1131+293insC	NP_001352064.1:n.1131+292_1131+293insC
NR_027400.2:n.1276+332_1276+333insC
NR_134502.1:n.624-728_624-727insC
XM_011520304.2:c.1131+292_1131+293insC	XP_011518606.1:n.1131+292_1131+293insC
XR_001747940.2:n.1256+292_1256+293insC
XR_002957158.1:n.1256+292_1256+293insC
NM_000543.5:c.1091+332_1091+333insC MANE Select	NP_000534.3:n.1091+332_1091+333insC
NM_001007593.3:c.1088+332_1088+333insC	NP_001007594.2:n.1088+332_1088+333insC
NM_001318087.2:c.1091+332_1091+333insC	NP_001305016.1:n.1091+332_1091+333insC
NM_001318088.2:c.170+292_170+293insC	NP_001305017.1:n.170+292_170+293insC
NM_001365135.2:c.1131+292_1131+293insC	NP_001352064.1:n.1131+292_1131+293insC
NR_027400.3:n.1216+332_1216+333insC
NR_134502.2:n.564-728_564-727insC