Canonical Allele Identifier: CA679182852

Gene: SMPD1

Linked Data

• dbSNP Id: rs1168236842
• gnomAD v3: 11-6394939-G-A
• gnomAD v4: 11-6394939-G-A
• MyVariant Identifiers: chr11:g.6416169G>A (hg19) ; chr11:g.6394939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394939G>A , CM000673.2:g.6394939G>A	GRCh38
NC_000011.9:g.6416169G>A , CM000673.1:g.6416169G>A	GRCh37
NC_000011.8:g.6372745G>A	NCBI36
NG_011780.1:g.9515G>A
NG_029615.1:g.29476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*332G>A MANE Select	ENSP00000340409.4:n.*332G>A
ENST00000342245.8:c.*332G>A	ENSP00000340409.4:n.*332G>A
ENST00000526280.1:c.1285G>A
ENST00000533123.5:c.*955G>A	ENSP00000435950.1:n.*955G>A
ENST00000534405.5:c.*1059G>A	ENSP00000434353.1:n.*1059G>A
NM_000543.4:c.*332G>A	NP_000534.3:n.*332G>A
NM_001007593.2:c.*332G>A	NP_001007594.2:n.*332G>A
XM_011520303.1:c.*332G>A	XP_011518605.1:n.*332G>A
NM_001318087.1:c.*721G>A	NP_001305016.1:n.*721G>A
NM_001318088.1:c.*332G>A	NP_001305017.1:n.*332G>A
NM_001365135.1:c.*332G>A	NP_001352064.1:n.*332G>A
NR_027400.2:n.2241G>A
NR_134502.1:n.1780G>A
XR_001747940.2:n.2413G>A
XR_002957158.1:n.2595G>A
NM_000543.5:c.*332G>A MANE Select	NP_000534.3:n.*332G>A
NM_001007593.3:c.*332G>A	NP_001007594.2:n.*332G>A
NM_001318087.2:c.*721G>A	NP_001305016.1:n.*721G>A
NM_001318088.2:c.*332G>A	NP_001305017.1:n.*332G>A
NM_001365135.2:c.*332G>A	NP_001352064.1:n.*332G>A
NR_027400.3:n.2181G>A
NR_134502.2:n.1720G>A