Canonical Allele Identifier: CA10639551

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 305210
• ClinVar RCV Id: RCV000386339 ; RCV001594941
• dbSNP Id: rs12273714
• gnomAD v2: 11-6415928-C-T
• gnomAD v3: 11-6394698-C-T
• gnomAD v4: 11-6394698-C-T
• MyVariant Identifiers: chr11:g.6415928C>T (hg19) ; chr11:g.6394698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394698C>T , CM000673.2:g.6394698C>T	GRCh38
NC_000011.9:g.6415928C>T , CM000673.1:g.6415928C>T	GRCh37
NC_000011.8:g.6372504C>T	NCBI36
NG_011780.1:g.9274C>T
NG_029615.1:g.29717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*91C>T MANE Select	ENSP00000340409.4:n.*91C>T
ENST00000342245.8:c.*91C>T	ENSP00000340409.4:n.*91C>T
ENST00000526280.1:c.1044C>T
ENST00000527275.5:c.*91C>T	ENSP00000435350.1:n.*91C>T
ENST00000531303.5:c.*838C>T	ENSP00000432625.1:n.*838C>T
ENST00000533123.5:c.*714C>T	ENSP00000435950.1:n.*714C>T
ENST00000534405.5:c.*818C>T	ENSP00000434353.1:n.*818C>T
NM_000543.4:c.*91C>T	NP_000534.3:n.*91C>T
NM_001007593.2:c.*91C>T	NP_001007594.2:n.*91C>T
XM_011520303.1:c.*91C>T	XP_011518605.1:n.*91C>T
NM_001318087.1:c.*480C>T	NP_001305016.1:n.*480C>T
NM_001318088.1:c.*91C>T	NP_001305017.1:n.*91C>T
NM_001365135.1:c.*91C>T	NP_001352064.1:n.*91C>T
NR_027400.2:n.2000C>T
NR_134502.1:n.1539C>T
XR_001747940.2:n.2172C>T
XR_002957158.1:n.2354C>T
NM_000543.5:c.*91C>T MANE Select	NP_000534.3:n.*91C>T
NM_001007593.3:c.*91C>T	NP_001007594.2:n.*91C>T
NM_001318087.2:c.*480C>T	NP_001305016.1:n.*480C>T
NM_001318088.2:c.*91C>T	NP_001305017.1:n.*91C>T
NM_001365135.2:c.*91C>T	NP_001352064.1:n.*91C>T
NR_027400.3:n.1940C>T
NR_134502.2:n.1479C>T