Canonical Allele Identifier: CA5852942

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 289948
• ClinVar RCV Id: RCV000370628 ; RCV000399404 ; RCV000675398 ; RCV001084821 ; RCV001249036 ; RCV003930180
• dbSNP Id: rs35122256
• ExAC: 11:6415530 G / C
• gnomAD v2: 11-6415530-G-C
• gnomAD v3: 11-6394300-G-C
• gnomAD v4: 11-6394300-G-C
• MyVariant Identifiers: chr11:g.6415530G>C (hg19) ; chr11:g.6394300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394300G>C , CM000673.2:g.6394300G>C	GRCh38
NC_000011.9:g.6415530G>C , CM000673.1:g.6415530G>C	GRCh37
NC_000011.8:g.6372106G>C	NCBI36
NG_011780.1:g.8876G>C
NG_029615.1:g.30115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1589G>C MANE Select	ENSP00000340409.4:p.Gly530Ala
ENST00000342245.8:c.1589G>C	ENSP00000340409.4:p.Gly530Ala
ENST00000526280.1:c.646G>C
ENST00000527275.5:c.1586G>C	ENSP00000435350.1:p.Gly529Ala
ENST00000531303.5:c.*440G>C	ENSP00000432625.1:n.*440G>C
ENST00000531336.1:n.577G>C
ENST00000533123.5:c.*316G>C	ENSP00000435950.1:n.*316G>C
ENST00000534405.5:c.*420G>C	ENSP00000434353.1:n.*420G>C
NM_000543.4:c.1589G>C	NP_000534.3:p.Gly530Ala
NM_001007593.2:c.1586G>C	NP_001007594.2:p.Gly529Ala
XM_005253075.3:c.*82G>C	XP_005253132.1:n.*82G>C
XM_011520303.1:c.1457G>C	XP_011518605.1:p.Gly486Ala
XM_011520304.1:c.*82G>C	XP_011518606.1:n.*82G>C
NM_001318087.1:c.*82G>C	NP_001305016.1:n.*82G>C
NM_001318088.1:c.668G>C	NP_001305017.1:p.Gly223Ala
NM_001365135.1:c.1457G>C	NP_001352064.1:p.Gly486Ala
NR_027400.2:n.1602G>C
NR_134502.1:n.1141G>C
XM_011520304.2:c.*82G>C	XP_011518606.1:n.*82G>C
XR_001747940.2:n.1774G>C
XR_002957158.1:n.1956G>C
NM_000543.5:c.1589G>C MANE Select	NP_000534.3:p.Gly530Ala
NM_001007593.3:c.1586G>C	NP_001007594.2:p.Gly529Ala
NM_001318087.2:c.*82G>C	NP_001305016.1:n.*82G>C
NM_001318088.2:c.668G>C	NP_001305017.1:p.Gly223Ala
NM_001365135.2:c.1457G>C	NP_001352064.1:p.Gly486Ala
NR_027400.3:n.1542G>C
NR_134502.2:n.1081G>C