Canonical Allele Identifier: CA679152314

Gene: SMPD1

Linked Data

• dbSNP Id: rs1228787165
• gnomAD v3: 11-6392493-T-TTTC
• gnomAD v4: 11-6392493-T-TTTC
• MyVariant Identifiers: chr11:g.6413723_6413724insTTC (hg19) ; chr11:g.6392493_6392494insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392495_6392496insCTT , CM000673.2:g.6392495_6392496insCTT	GRCh38
NC_000011.9:g.6413725_6413726insCTT , CM000673.1:g.6413725_6413726insCTT	GRCh37
NC_000011.8:g.6370301_6370302insCTT	NCBI36
NG_011780.1:g.7071_7072insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+339_1091+340insCTT MANE Select	ENSP00000340409.4:n.1091+339_1091+340insCTT
ENST00000342245.8:c.1091+339_1091+340insCTT	ENSP00000340409.4:n.1091+339_1091+340insCTT
ENST00000526280.1:c.320+299_320+300insCTT
ENST00000527275.5:c.1088+339_1088+340insCTT	ENSP00000435350.1:n.1088+339_1088+340insCTT
ENST00000531303.5:c.439-721_439-720insCTT	ENSP00000432625.1:n.439-721_439-720insCTT
ENST00000533123.5:c.1091+339_1091+340insCTT	ENSP00000435950.1:n.1091+339_1091+340insCTT
ENST00000534405.5:c.1131+299_1131+300insCTT	ENSP00000434353.1:n.1131+299_1131+300insCTT
NM_000543.4:c.1091+339_1091+340insCTT	NP_000534.3:n.1091+339_1091+340insCTT
NM_001007593.2:c.1088+339_1088+340insCTT	NP_001007594.2:n.1088+339_1088+340insCTT
XM_005253075.3:c.1091+339_1091+340insCTT	XP_005253132.1:n.1091+339_1091+340insCTT
XM_011520303.1:c.1131+299_1131+300insCTT	XP_011518605.1:n.1131+299_1131+300insCTT
XM_011520304.1:c.1131+299_1131+300insCTT	XP_011518606.1:n.1131+299_1131+300insCTT
XR_930886.1:n.1429+299_1429+300insCTT
NM_001318087.1:c.1091+339_1091+340insCTT	NP_001305016.1:n.1091+339_1091+340insCTT
NM_001318088.1:c.170+299_170+300insCTT	NP_001305017.1:n.170+299_170+300insCTT
NM_001365135.1:c.1131+299_1131+300insCTT	NP_001352064.1:n.1131+299_1131+300insCTT
NR_027400.2:n.1276+339_1276+340insCTT
NR_134502.1:n.624-721_624-720insCTT
XM_011520304.2:c.1131+299_1131+300insCTT	XP_011518606.1:n.1131+299_1131+300insCTT
XR_001747940.2:n.1256+299_1256+300insCTT
XR_002957158.1:n.1256+299_1256+300insCTT
NM_000543.5:c.1091+339_1091+340insCTT MANE Select	NP_000534.3:n.1091+339_1091+340insCTT
NM_001007593.3:c.1088+339_1088+340insCTT	NP_001007594.2:n.1088+339_1088+340insCTT
NM_001318087.2:c.1091+339_1091+340insCTT	NP_001305016.1:n.1091+339_1091+340insCTT
NM_001318088.2:c.170+299_170+300insCTT	NP_001305017.1:n.170+299_170+300insCTT
NM_001365135.2:c.1131+299_1131+300insCTT	NP_001352064.1:n.1131+299_1131+300insCTT
NR_027400.3:n.1216+339_1216+340insCTT
NR_134502.2:n.564-721_564-720insCTT