Canonical Allele Identifier: CA274348

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 189075
• ClinVar RCV Id: RCV000169478 ; RCV000521803 ; RCV000802459 ; RCV001249039
• dbSNP Id: rs753508874
• ExAC: 11:6415215 C / T
• gnomAD v2: 11-6415215-C-T
• gnomAD v3: 11-6393985-C-T
• gnomAD v4: 11-6393985-C-T
• MyVariant Identifiers: chr11:g.6415215C>T (hg19) ; chr11:g.6393985C>T (hg38)
• PubMed: PMID:12369017 ; PMID:12556236 ; PMID:12712061 ; PMID:15221801 ; PMID:17011332 ; PMID:22818240

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1430C>T MANE Select	ENSP00000340409.4:p.Pro477Leu
ENST00000342245.8:c.1430C>T	ENSP00000340409.4:p.Pro477Leu
ENST00000526280.1:c.487C>T
ENST00000527275.5:c.1427C>T	ENSP00000435350.1:p.Pro476Leu
ENST00000531303.5:c.*261C>T	ENSP00000432625.1:n.*261C>T
ENST00000531336.1:n.262C>T
ENST00000532367.1:n.266C>T
ENST00000533123.5:c.*157C>T	ENSP00000435950.1:n.*157C>T
ENST00000534405.5:c.*261C>T	ENSP00000434353.1:n.*261C>T
NM_000543.4:c.1430C>T	NP_000534.3:p.Pro477Leu
NM_001007593.2:c.1427C>T	NP_001007594.2:p.Pro476Leu
XM_005253075.3:c.1430C>T	XP_005253132.1:p.Pro477Leu
XM_011520303.1:c.1298C>T	XP_011518605.1:p.Pro433Leu
XM_011520304.1:c.1298C>T	XP_011518606.1:p.Pro433Leu
XR_930886.1:n.1768C>T
NM_001318087.1:c.1430C>T	NP_001305016.1:p.Pro477Leu
NM_001318088.1:c.509C>T	NP_001305017.1:p.Pro170Leu
NM_001365135.1:c.1298C>T	NP_001352064.1:p.Pro433Leu
NR_027400.2:n.1443C>T
NR_134502.1:n.962C>T
XM_011520304.2:c.1298C>T	XP_011518606.1:p.Pro433Leu
XR_001747940.2:n.1595C>T
XR_002957158.1:n.1797C>T
NM_000543.5:c.1430C>T MANE Select	NP_000534.3:p.Pro477Leu
NM_001007593.3:c.1427C>T	NP_001007594.2:p.Pro476Leu
NM_001318087.2:c.1430C>T	NP_001305016.1:p.Pro477Leu
NM_001318088.2:c.509C>T	NP_001305017.1:p.Pro170Leu
NM_001365135.2:c.1298C>T	NP_001352064.1:p.Pro433Leu
NR_027400.3:n.1383C>T
NR_134502.2:n.902C>T