Canonical Allele Identifier: CA679148583

Gene: SMPD1

Linked Data

• dbSNP Id: rs1468527216
• gnomAD v4: 11-6390578-C-A
• MyVariant Identifiers: chr11:g.6411808C>A (hg19) ; chr11:g.6390578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390578C>A , CM000673.2:g.6390578C>A	GRCh38
NC_000011.9:g.6411808C>A , CM000673.1:g.6411808C>A	GRCh37
NC_000011.8:g.6368384C>A	NCBI36
NG_011780.1:g.5154C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-21C>A MANE Select	ENSP00000340409.4:n.-21C>A
ENST00000342245.8:c.-21C>A	ENSP00000340409.4:n.-21C>A
ENST00000527275.5:c.-21C>A	ENSP00000435350.1:n.-21C>A
ENST00000530395.1:c.-157C>A	ENSP00000431479.1:n.-157C>A
ENST00000533123.5:c.-21C>A	ENSP00000435950.1:n.-21C>A
ENST00000533196.1:n.139C>A
ENST00000534405.5:c.-21C>A	ENSP00000434353.1:n.-21C>A
NM_000543.4:c.-21C>A	NP_000534.3:n.-21C>A
NM_001007593.2:c.-21C>A	NP_001007594.2:n.-21C>A
XM_005253075.3:c.-21C>A	XP_005253132.1:n.-21C>A
XM_011520303.1:c.-21C>A	XP_011518605.1:n.-21C>A
XM_011520304.1:c.-21C>A	XP_011518606.1:n.-21C>A
XR_930886.1:n.278C>A
NM_001318087.1:c.-21C>A	NP_001305016.1:n.-21C>A
NM_001318088.1:c.-982C>A	NP_001305017.1:n.-982C>A
NM_001365135.1:c.-21C>A	NP_001352064.1:n.-21C>A
NR_027400.2:n.165C>A
NR_134502.1:n.165C>A
XM_011520304.2:c.-21C>A	XP_011518606.1:n.-21C>A
XR_001747940.2:n.105C>A
XR_002957158.1:n.105C>A
NM_000543.5:c.-21C>A MANE Select	NP_000534.3:n.-21C>A
NM_001007593.3:c.-21C>A	NP_001007594.2:n.-21C>A
NM_001318087.2:c.-21C>A	NP_001305016.1:n.-21C>A
NM_001318088.2:c.-982C>A	NP_001305017.1:n.-982C>A
NM_001365135.2:c.-21C>A	NP_001352064.1:n.-21C>A
NR_027400.3:n.105C>A
NR_134502.2:n.105C>A