Canonical Allele Identifier: CA5852857

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 305203
• ClinVar RCV Id: RCV000335593 ; RCV001407437
• dbSNP Id: rs373742012
• ExAC: 11:6414931 G / A
• gnomAD v2: 11-6414931-G-A
• gnomAD v3: 11-6393701-G-A
• gnomAD v4: 11-6393701-G-A
• MyVariant Identifiers: chr11:g.6414931G>A (hg19) ; chr11:g.6393701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393701G>A , CM000673.2:g.6393701G>A	GRCh38
NC_000011.9:g.6414931G>A , CM000673.1:g.6414931G>A	GRCh37
NC_000011.8:g.6371507G>A	NCBI36
NG_011780.1:g.8277G>A
NG_029615.1:g.30714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1340+8G>A MANE Select	ENSP00000340409.4:n.1340+8G>A
ENST00000342245.8:c.1340+8G>A	ENSP00000340409.4:n.1340+8G>A
ENST00000526280.1:c.397+8G>A
ENST00000527275.5:c.1337+8G>A	ENSP00000435350.1:n.1337+8G>A
ENST00000531303.5:c.*171+8G>A	ENSP00000432625.1:n.*171+8G>A
ENST00000531336.1:n.172+8G>A
ENST00000532367.1:n.176+8G>A
ENST00000533123.5:c.*67+8G>A	ENSP00000435950.1:n.*67+8G>A
ENST00000534405.5:c.*171+8G>A	ENSP00000434353.1:n.*171+8G>A
NM_000543.4:c.1340+8G>A	NP_000534.3:n.1340+8G>A
NM_001007593.2:c.1337+8G>A	NP_001007594.2:n.1337+8G>A
XM_005253075.3:c.1340+8G>A	XP_005253132.1:n.1340+8G>A
XM_011520303.1:c.1208+8G>A	XP_011518605.1:n.1208+8G>A
XM_011520304.1:c.1208+8G>A	XP_011518606.1:n.1208+8G>A
XR_930886.1:n.1678+8G>A
NM_001318087.1:c.1340+8G>A	NP_001305016.1:n.1340+8G>A
NM_001318088.1:c.419+8G>A	NP_001305017.1:n.419+8G>A
NM_001365135.1:c.1208+8G>A	NP_001352064.1:n.1208+8G>A
NR_027400.2:n.1353+8G>A
NR_134502.1:n.872+8G>A
XM_011520304.2:c.1208+8G>A	XP_011518606.1:n.1208+8G>A
XR_001747940.2:n.1505+8G>A
XR_002957158.1:n.1513G>A
NM_000543.5:c.1340+8G>A MANE Select	NP_000534.3:n.1340+8G>A
NM_001007593.3:c.1337+8G>A	NP_001007594.2:n.1337+8G>A
NM_001318087.2:c.1340+8G>A	NP_001305016.1:n.1340+8G>A
NM_001318088.2:c.419+8G>A	NP_001305017.1:n.419+8G>A
NM_001365135.2:c.1208+8G>A	NP_001352064.1:n.1208+8G>A
NR_027400.3:n.1293+8G>A
NR_134502.2:n.812+8G>A