Canonical Allele Identifier: CA597438337

Gene: SMPD1

Linked Data

• dbSNP Id: rs200796568
• gnomAD v2: 11-6414798-G-C
• gnomAD v3: 11-6393568-G-C
• gnomAD v4: 11-6393568-G-C
• MyVariant Identifiers: chr11:g.6414798G>C (hg19) ; chr11:g.6393568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393568G>C , CM000673.2:g.6393568G>C	GRCh38
NC_000011.9:g.6414798G>C , CM000673.1:g.6414798G>C	GRCh37
NC_000011.8:g.6371374G>C	NCBI36
NG_011780.1:g.8144G>C
NG_029615.1:g.30847C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1264-49G>C MANE Select	ENSP00000340409.4:n.1264-49G>C
ENST00000342245.8:c.1264-49G>C	ENSP00000340409.4:n.1264-49G>C
ENST00000526280.1:c.321-49G>C
ENST00000527275.5:c.1261-49G>C	ENSP00000435350.1:n.1261-49G>C
ENST00000531303.5:c.*95-49G>C	ENSP00000432625.1:n.*95-49G>C
ENST00000531336.1:n.96-49G>C
ENST00000532367.1:n.51G>C
ENST00000533123.5:c.1092-49G>C	ENSP00000435950.1:n.1092-49G>C
ENST00000534405.5:c.*95-49G>C	ENSP00000434353.1:n.*95-49G>C
NM_000543.4:c.1264-49G>C	NP_000534.3:n.1264-49G>C
NM_001007593.2:c.1261-49G>C	NP_001007594.2:n.1261-49G>C
XM_005253075.3:c.1264-49G>C	XP_005253132.1:n.1264-49G>C
XM_011520303.1:c.1132-49G>C	XP_011518605.1:n.1132-49G>C
XM_011520304.1:c.1132-49G>C	XP_011518606.1:n.1132-49G>C
XR_930886.1:n.1602-49G>C
NM_001318087.1:c.1264-49G>C	NP_001305016.1:n.1264-49G>C
NM_001318088.1:c.343-49G>C	NP_001305017.1:n.343-49G>C
NM_001365135.1:c.1132-49G>C	NP_001352064.1:n.1132-49G>C
NR_027400.2:n.1277-49G>C
NR_134502.1:n.796-49G>C
XM_011520304.2:c.1132-49G>C	XP_011518606.1:n.1132-49G>C
XR_001747940.2:n.1429-49G>C
XR_002957158.1:n.1429-49G>C
NM_000543.5:c.1264-49G>C MANE Select	NP_000534.3:n.1264-49G>C
NM_001007593.3:c.1261-49G>C	NP_001007594.2:n.1261-49G>C
NM_001318087.2:c.1264-49G>C	NP_001305016.1:n.1264-49G>C
NM_001318088.2:c.343-49G>C	NP_001305017.1:n.343-49G>C
NM_001365135.2:c.1132-49G>C	NP_001352064.1:n.1132-49G>C
NR_027400.3:n.1217-49G>C
NR_134502.2:n.736-49G>C