Canonical Allele Identifier: CA379370731

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1684031
• ClinVar RCV Id: RCV002275717
• dbSNP Id: rs2134010914
• gnomAD v4: 11-6391733-G-A
• MyVariant Identifiers: chr11:g.6412963G>A (hg19) ; chr11:g.6391733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391733G>A , CM000673.2:g.6391733G>A	GRCh38
NC_000011.9:g.6412963G>A , CM000673.1:g.6412963G>A	GRCh37
NC_000011.8:g.6369539G>A	NCBI36
NG_011780.1:g.6309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.668G>A MANE Select	ENSP00000340409.4:p.Cys223Tyr
ENST00000342245.8:c.668G>A	ENSP00000340409.4:p.Cys223Tyr
ENST00000527275.5:c.665G>A	ENSP00000435350.1:p.Cys222Tyr
ENST00000530395.1:c.-95-57G>A	ENSP00000431479.1:n.-95-57G>A
ENST00000531303.5:c.438+230G>A	ENSP00000432625.1:n.438+230G>A
ENST00000533123.5:c.668G>A	ENSP00000435950.1:p.Cys223Tyr
ENST00000533196.1:n.375-273G>A
ENST00000534405.5:c.668G>A	ENSP00000434353.1:p.Cys223Tyr
NM_000543.4:c.668G>A	NP_000534.3:p.Cys223Tyr
NM_001007593.2:c.665G>A	NP_001007594.2:p.Cys222Tyr
XM_005253075.3:c.668G>A	XP_005253132.1:p.Cys223Tyr
XM_011520303.1:c.668G>A	XP_011518605.1:p.Cys223Tyr
XM_011520304.1:c.668G>A	XP_011518606.1:p.Cys223Tyr
XR_930886.1:n.966G>A
NM_001318087.1:c.668G>A	NP_001305016.1:p.Cys223Tyr
NM_001318088.1:c.-294G>A	NP_001305017.1:n.-294G>A
NM_001365135.1:c.668G>A	NP_001352064.1:p.Cys223Tyr
NR_027400.2:n.853G>A
NR_134502.1:n.623+230G>A
XM_011520304.2:c.668G>A	XP_011518606.1:p.Cys223Tyr
XR_001747940.2:n.793G>A
XR_002957158.1:n.793G>A
NM_000543.5:c.668G>A MANE Select	NP_000534.3:p.Cys223Tyr
NM_001007593.3:c.665G>A	NP_001007594.2:p.Cys222Tyr
NM_001318087.2:c.668G>A	NP_001305016.1:p.Cys223Tyr
NM_001318088.2:c.-294G>A	NP_001305017.1:n.-294G>A
NM_001365135.2:c.668G>A	NP_001352064.1:p.Cys223Tyr
NR_027400.3:n.793G>A
NR_134502.2:n.563+230G>A