Canonical Allele Identifier: CA5852686

Gene: SMPD1

Linked Data

• dbSNP Id: rs775563981
• ExAC: 11:6413097 C / A
• gnomAD v2: 11-6413097-C-A
• gnomAD v4: 11-6391867-C-A
• MyVariant Identifiers: chr11:g.6413097C>A (hg19) ; chr11:g.6391867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391867C>A , CM000673.2:g.6391867C>A	GRCh38
NC_000011.9:g.6413097C>A , CM000673.1:g.6413097C>A	GRCh37
NC_000011.8:g.6369673C>A	NCBI36
NG_011780.1:g.6443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.802C>A MANE Select	ENSP00000340409.4:p.Pro268Thr
ENST00000342245.8:c.802C>A	ENSP00000340409.4:p.Pro268Thr
ENST00000527275.5:c.799C>A	ENSP00000435350.1:p.Pro267Thr
ENST00000530395.1:c.-18C>A	ENSP00000431479.1:n.-18C>A
ENST00000531303.5:c.438+364C>A	ENSP00000432625.1:n.438+364C>A
ENST00000533123.5:c.802C>A	ENSP00000435950.1:p.Pro268Thr
ENST00000533196.1:n.375-139C>A
ENST00000534405.5:c.802C>A	ENSP00000434353.1:p.Pro268Thr
NM_000543.4:c.802C>A	NP_000534.3:p.Pro268Thr
NM_001007593.2:c.799C>A	NP_001007594.2:p.Pro267Thr
XM_005253075.3:c.802C>A	XP_005253132.1:p.Pro268Thr
XM_011520303.1:c.802C>A	XP_011518605.1:p.Pro268Thr
XM_011520304.1:c.802C>A	XP_011518606.1:p.Pro268Thr
XR_930886.1:n.1100C>A
NM_001318087.1:c.802C>A	NP_001305016.1:p.Pro268Thr
NM_001318088.1:c.-160C>A	NP_001305017.1:n.-160C>A
NM_001365135.1:c.802C>A	NP_001352064.1:p.Pro268Thr
NR_027400.2:n.987C>A
NR_134502.1:n.623+364C>A
XM_011520304.2:c.802C>A	XP_011518606.1:p.Pro268Thr
XR_001747940.2:n.927C>A
XR_002957158.1:n.927C>A
NM_000543.5:c.802C>A MANE Select	NP_000534.3:p.Pro268Thr
NM_001007593.3:c.799C>A	NP_001007594.2:p.Pro267Thr
NM_001318087.2:c.802C>A	NP_001305016.1:p.Pro268Thr
NM_001318088.2:c.-160C>A	NP_001305017.1:n.-160C>A
NM_001365135.2:c.802C>A	NP_001352064.1:p.Pro268Thr
NR_027400.3:n.927C>A
NR_134502.2:n.563+364C>A