Canonical Allele Identifier: CA379374486

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393671-A-G
• MyVariant Identifiers: chr11:g.6414901A>G (hg19) ; chr11:g.6393671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393671A>G , CM000673.2:g.6393671A>G	GRCh38
NC_000011.9:g.6414901A>G , CM000673.1:g.6414901A>G	GRCh37
NC_000011.8:g.6371477A>G	NCBI36
NG_011780.1:g.8247A>G
NG_029615.1:g.30744T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1318A>G MANE Select	ENSP00000340409.4:p.Asn440Asp
ENST00000342245.8:c.1318A>G	ENSP00000340409.4:p.Asn440Asp
ENST00000526280.1:c.375A>G
ENST00000527275.5:c.1315A>G	ENSP00000435350.1:p.Asn439Asp
ENST00000531303.5:c.*149A>G	ENSP00000432625.1:n.*149A>G
ENST00000531336.1:n.150A>G
ENST00000532367.1:n.154A>G
ENST00000533123.5:c.*45A>G	ENSP00000435950.1:n.*45A>G
ENST00000534405.5:c.*149A>G	ENSP00000434353.1:n.*149A>G
NM_000543.4:c.1318A>G	NP_000534.3:p.Asn440Asp
NM_001007593.2:c.1315A>G	NP_001007594.2:p.Asn439Asp
XM_005253075.3:c.1318A>G	XP_005253132.1:p.Asn440Asp
XM_011520303.1:c.1186A>G	XP_011518605.1:p.Asn396Asp
XM_011520304.1:c.1186A>G	XP_011518606.1:p.Asn396Asp
XR_930886.1:n.1656A>G
NM_001318087.1:c.1318A>G	NP_001305016.1:p.Asn440Asp
NM_001318088.1:c.397A>G	NP_001305017.1:p.Asn133Asp
NM_001365135.1:c.1186A>G	NP_001352064.1:p.Asn396Asp
NR_027400.2:n.1331A>G
NR_134502.1:n.850A>G
XM_011520304.2:c.1186A>G	XP_011518606.1:p.Asn396Asp
XR_001747940.2:n.1483A>G
XR_002957158.1:n.1483A>G
NM_000543.5:c.1318A>G MANE Select	NP_000534.3:p.Asn440Asp
NM_001007593.3:c.1315A>G	NP_001007594.2:p.Asn439Asp
NM_001318087.2:c.1318A>G	NP_001305016.1:p.Asn440Asp
NM_001318088.2:c.397A>G	NP_001305017.1:p.Asn133Asp
NM_001365135.2:c.1186A>G	NP_001352064.1:p.Asn396Asp
NR_027400.3:n.1271A>G
NR_134502.2:n.790A>G