Canonical Allele Identifier: CA379375293

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1489165
• ClinVar RCV Id: RCV001980495
• dbSNP Id: rs753508874
• gnomAD v2: 11-6415215-C-A
• gnomAD v3: 11-6393985-C-A
• gnomAD v4: 11-6393985-C-A
• MyVariant Identifiers: chr11:g.6415215C>A (hg19) ; chr11:g.6393985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393985C>A , CM000673.2:g.6393985C>A	GRCh38
NC_000011.9:g.6415215C>A , CM000673.1:g.6415215C>A	GRCh37
NC_000011.8:g.6371791C>A	NCBI36
NG_011780.1:g.8561C>A
NG_029615.1:g.30430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1430C>A MANE Select	ENSP00000340409.4:p.Pro477Gln
ENST00000342245.8:c.1430C>A	ENSP00000340409.4:p.Pro477Gln
ENST00000526280.1:c.487C>A
ENST00000527275.5:c.1427C>A	ENSP00000435350.1:p.Pro476Gln
ENST00000531303.5:c.*261C>A	ENSP00000432625.1:n.*261C>A
ENST00000531336.1:n.262C>A
ENST00000532367.1:n.266C>A
ENST00000533123.5:c.*157C>A	ENSP00000435950.1:n.*157C>A
ENST00000534405.5:c.*261C>A	ENSP00000434353.1:n.*261C>A
NM_000543.4:c.1430C>A	NP_000534.3:p.Pro477Gln
NM_001007593.2:c.1427C>A	NP_001007594.2:p.Pro476Gln
XM_005253075.3:c.1430C>A	XP_005253132.1:p.Pro477Gln
XM_011520303.1:c.1298C>A	XP_011518605.1:p.Pro433Gln
XM_011520304.1:c.1298C>A	XP_011518606.1:p.Pro433Gln
XR_930886.1:n.1768C>A
NM_001318087.1:c.1430C>A	NP_001305016.1:p.Pro477Gln
NM_001318088.1:c.509C>A	NP_001305017.1:p.Pro170Gln
NM_001365135.1:c.1298C>A	NP_001352064.1:p.Pro433Gln
NR_027400.2:n.1443C>A
NR_134502.1:n.962C>A
XM_011520304.2:c.1298C>A	XP_011518606.1:p.Pro433Gln
XR_001747940.2:n.1595C>A
XR_002957158.1:n.1797C>A
NM_000543.5:c.1430C>A MANE Select	NP_000534.3:p.Pro477Gln
NM_001007593.3:c.1427C>A	NP_001007594.2:p.Pro476Gln
NM_001318087.2:c.1430C>A	NP_001305016.1:p.Pro477Gln
NM_001318088.2:c.509C>A	NP_001305017.1:p.Pro170Gln
NM_001365135.2:c.1298C>A	NP_001352064.1:p.Pro433Gln
NR_027400.3:n.1383C>A
NR_134502.2:n.902C>A