Canonical Allele Identifier: CA379374307

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2947702
• ClinVar RCV Id: RCV003804332
• MyVariant Identifiers: chr11:g.6414872C>T (hg19) ; chr11:g.6393642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393642C>T , CM000673.2:g.6393642C>T	GRCh38
NC_000011.9:g.6414872C>T , CM000673.1:g.6414872C>T	GRCh37
NC_000011.8:g.6371448C>T	NCBI36
NG_011780.1:g.8218C>T
NG_029615.1:g.30773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1289C>T MANE Select	ENSP00000340409.4:p.Pro430Leu
ENST00000342245.8:c.1289C>T	ENSP00000340409.4:p.Pro430Leu
ENST00000526280.1:c.346C>T
ENST00000527275.5:c.1286C>T	ENSP00000435350.1:p.Pro429Leu
ENST00000531303.5:c.*120C>T	ENSP00000432625.1:n.*120C>T
ENST00000531336.1:n.121C>T
ENST00000532367.1:n.125C>T
ENST00000533123.5:c.*16C>T	ENSP00000435950.1:n.*16C>T
ENST00000534405.5:c.*120C>T	ENSP00000434353.1:n.*120C>T
NM_000543.4:c.1289C>T	NP_000534.3:p.Pro430Leu
NM_001007593.2:c.1286C>T	NP_001007594.2:p.Pro429Leu
XM_005253075.3:c.1289C>T	XP_005253132.1:p.Pro430Leu
XM_011520303.1:c.1157C>T	XP_011518605.1:p.Pro386Leu
XM_011520304.1:c.1157C>T	XP_011518606.1:p.Pro386Leu
XR_930886.1:n.1627C>T
NM_001318087.1:c.1289C>T	NP_001305016.1:p.Pro430Leu
NM_001318088.1:c.368C>T	NP_001305017.1:p.Pro123Leu
NM_001365135.1:c.1157C>T	NP_001352064.1:p.Pro386Leu
NR_027400.2:n.1302C>T
NR_134502.1:n.821C>T
XM_011520304.2:c.1157C>T	XP_011518606.1:p.Pro386Leu
XR_001747940.2:n.1454C>T
XR_002957158.1:n.1454C>T
NM_000543.5:c.1289C>T MANE Select	NP_000534.3:p.Pro430Leu
NM_001007593.3:c.1286C>T	NP_001007594.2:p.Pro429Leu
NM_001318087.2:c.1289C>T	NP_001305016.1:p.Pro430Leu
NM_001318088.2:c.368C>T	NP_001305017.1:p.Pro123Leu
NM_001365135.2:c.1157C>T	NP_001352064.1:p.Pro386Leu
NR_027400.3:n.1242C>T
NR_134502.2:n.761C>T