Canonical Allele Identifier: CA597263910

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847980478
• gnomAD v2: 11-6413747-A-ATTT
• gnomAD v3: 11-6392517-A-ATTT
• gnomAD v4: 11-6392517-A-ATTT
• MyVariant Identifiers: chr11:g.6413747_6413748insTTT (hg19) ; chr11:g.6392517_6392518insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392517_6392518insTTT , CM000673.2:g.6392517_6392518insTTT	GRCh38
NC_000011.9:g.6413747_6413748insTTT , CM000673.1:g.6413747_6413748insTTT	GRCh37
NC_000011.8:g.6370323_6370324insTTT	NCBI36
NG_011780.1:g.7093_7094insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+361_1091+362insTTT MANE Select	ENSP00000340409.4:n.1091+361_1091+362insTTT
ENST00000342245.8:c.1091+361_1091+362insTTT	ENSP00000340409.4:n.1091+361_1091+362insTTT
ENST00000526280.1:c.320+321_320+322insTTT
ENST00000527275.5:c.1088+361_1088+362insTTT	ENSP00000435350.1:n.1088+361_1088+362insTTT
ENST00000531303.5:c.439-699_439-698insTTT	ENSP00000432625.1:n.439-699_439-698insTTT
ENST00000533123.5:c.1091+361_1091+362insTTT	ENSP00000435950.1:n.1091+361_1091+362insTTT
ENST00000534405.5:c.1131+321_1131+322insTTT	ENSP00000434353.1:n.1131+321_1131+322insTTT
NM_000543.4:c.1091+361_1091+362insTTT	NP_000534.3:n.1091+361_1091+362insTTT
NM_001007593.2:c.1088+361_1088+362insTTT	NP_001007594.2:n.1088+361_1088+362insTTT
XM_005253075.3:c.1091+361_1091+362insTTT	XP_005253132.1:n.1091+361_1091+362insTTT
XM_011520303.1:c.1131+321_1131+322insTTT	XP_011518605.1:n.1131+321_1131+322insTTT
XM_011520304.1:c.1131+321_1131+322insTTT	XP_011518606.1:n.1131+321_1131+322insTTT
XR_930886.1:n.1429+321_1429+322insTTT
NM_001318087.1:c.1091+361_1091+362insTTT	NP_001305016.1:n.1091+361_1091+362insTTT
NM_001318088.1:c.170+321_170+322insTTT	NP_001305017.1:n.170+321_170+322insTTT
NM_001365135.1:c.1131+321_1131+322insTTT	NP_001352064.1:n.1131+321_1131+322insTTT
NR_027400.2:n.1276+361_1276+362insTTT
NR_134502.1:n.624-699_624-698insTTT
XM_011520304.2:c.1131+321_1131+322insTTT	XP_011518606.1:n.1131+321_1131+322insTTT
XR_001747940.2:n.1256+321_1256+322insTTT
XR_002957158.1:n.1256+321_1256+322insTTT
NM_000543.5:c.1091+361_1091+362insTTT MANE Select	NP_000534.3:n.1091+361_1091+362insTTT
NM_001007593.3:c.1088+361_1088+362insTTT	NP_001007594.2:n.1088+361_1088+362insTTT
NM_001318087.2:c.1091+361_1091+362insTTT	NP_001305016.1:n.1091+361_1091+362insTTT
NM_001318088.2:c.170+321_170+322insTTT	NP_001305017.1:n.170+321_170+322insTTT
NM_001365135.2:c.1131+321_1131+322insTTT	NP_001352064.1:n.1131+321_1131+322insTTT
NR_027400.3:n.1216+361_1216+362insTTT
NR_134502.2:n.564-699_564-698insTTT