Canonical Allele Identifier: CA379375285

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1173976
• ClinVar RCV Id: RCV001527429
• dbSNP Id: rs2134021440
• MyVariant Identifiers: chr11:g.6415214C>A (hg19) ; chr11:g.6393984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393984C>A , CM000673.2:g.6393984C>A	GRCh38
NC_000011.9:g.6415214C>A , CM000673.1:g.6415214C>A	GRCh37
NC_000011.8:g.6371790C>A	NCBI36
NG_011780.1:g.8560C>A
NG_029615.1:g.30431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1429C>A MANE Select	ENSP00000340409.4:p.Pro477Thr
ENST00000342245.8:c.1429C>A	ENSP00000340409.4:p.Pro477Thr
ENST00000526280.1:c.486C>A
ENST00000527275.5:c.1426C>A	ENSP00000435350.1:p.Pro476Thr
ENST00000531303.5:c.*260C>A	ENSP00000432625.1:n.*260C>A
ENST00000531336.1:n.261C>A
ENST00000532367.1:n.265C>A
ENST00000533123.5:c.*156C>A	ENSP00000435950.1:n.*156C>A
ENST00000534405.5:c.*260C>A	ENSP00000434353.1:n.*260C>A
NM_000543.4:c.1429C>A	NP_000534.3:p.Pro477Thr
NM_001007593.2:c.1426C>A	NP_001007594.2:p.Pro476Thr
XM_005253075.3:c.1429C>A	XP_005253132.1:p.Pro477Thr
XM_011520303.1:c.1297C>A	XP_011518605.1:p.Pro433Thr
XM_011520304.1:c.1297C>A	XP_011518606.1:p.Pro433Thr
XR_930886.1:n.1767C>A
NM_001318087.1:c.1429C>A	NP_001305016.1:p.Pro477Thr
NM_001318088.1:c.508C>A	NP_001305017.1:p.Pro170Thr
NM_001365135.1:c.1297C>A	NP_001352064.1:p.Pro433Thr
NR_027400.2:n.1442C>A
NR_134502.1:n.961C>A
XM_011520304.2:c.1297C>A	XP_011518606.1:p.Pro433Thr
XR_001747940.2:n.1594C>A
XR_002957158.1:n.1796C>A
NM_000543.5:c.1429C>A MANE Select	NP_000534.3:p.Pro477Thr
NM_001007593.3:c.1426C>A	NP_001007594.2:p.Pro476Thr
NM_001318087.2:c.1429C>A	NP_001305016.1:p.Pro477Thr
NM_001318088.2:c.508C>A	NP_001305017.1:p.Pro170Thr
NM_001365135.2:c.1297C>A	NP_001352064.1:p.Pro433Thr
NR_027400.3:n.1382C>A
NR_134502.2:n.901C>A