Canonical Allele Identifier: CA5852910

Gene: SMPD1

Linked Data

• dbSNP Id: rs761537201
• ExAC: 11:6415367 T / C
• gnomAD v2: 11-6415367-T-C
• gnomAD v4: 11-6394137-T-C
• MyVariant Identifiers: chr11:g.6415367T>C (hg19) ; chr11:g.6394137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394137T>C , CM000673.2:g.6394137T>C	GRCh38
NC_000011.9:g.6415367T>C , CM000673.1:g.6415367T>C	GRCh37
NC_000011.8:g.6371943T>C	NCBI36
NG_011780.1:g.8713T>C
NG_029615.1:g.30278A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1487-61T>C MANE Select	ENSP00000340409.4:n.1487-61T>C
ENST00000342245.8:c.1487-61T>C	ENSP00000340409.4:n.1487-61T>C
ENST00000526280.1:c.544-61T>C
ENST00000527275.5:c.1484-61T>C	ENSP00000435350.1:n.1484-61T>C
ENST00000531303.5:c.*318-41T>C	ENSP00000432625.1:n.*318-41T>C
ENST00000531336.1:n.414T>C
ENST00000533123.5:c.*214-61T>C	ENSP00000435950.1:n.*214-61T>C
ENST00000534405.5:c.*318-61T>C	ENSP00000434353.1:n.*318-61T>C
NM_000543.4:c.1487-61T>C	NP_000534.3:n.1487-61T>C
NM_001007593.2:c.1484-61T>C	NP_001007594.2:n.1484-61T>C
XM_005253075.3:c.1487-41T>C	XP_005253132.1:n.1487-41T>C
XM_011520303.1:c.1355-61T>C	XP_011518605.1:n.1355-61T>C
XM_011520304.1:c.1355-41T>C	XP_011518606.1:n.1355-41T>C
NM_001318087.1:c.1487-41T>C	NP_001305016.1:n.1487-41T>C
NM_001318088.1:c.566-61T>C	NP_001305017.1:n.566-61T>C
NM_001365135.1:c.1355-61T>C	NP_001352064.1:n.1355-61T>C
NR_027400.2:n.1500-61T>C
NR_134502.1:n.1019-41T>C
XM_011520304.2:c.1355-41T>C	XP_011518606.1:n.1355-41T>C
XR_001747940.2:n.1652-41T>C
XR_002957158.1:n.1854-61T>C
NM_000543.5:c.1487-61T>C MANE Select	NP_000534.3:n.1487-61T>C
NM_001007593.3:c.1484-61T>C	NP_001007594.2:n.1484-61T>C
NM_001318087.2:c.1487-41T>C	NP_001305016.1:n.1487-41T>C
NM_001318088.2:c.566-61T>C	NP_001305017.1:n.566-61T>C
NM_001365135.2:c.1355-61T>C	NP_001352064.1:n.1355-61T>C
NR_027400.3:n.1440-61T>C
NR_134502.2:n.959-41T>C