Canonical Allele Identifier: CA597438196

Gene: SMPD1

Linked Data

• dbSNP Id: rs1282761569
• gnomAD v2: 11-6415274-G-A
• gnomAD v4: 11-6394044-G-A
• MyVariant Identifiers: chr11:g.6415274G>A (hg19) ; chr11:g.6394044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394044G>A , CM000673.2:g.6394044G>A	GRCh38
NC_000011.9:g.6415274G>A , CM000673.1:g.6415274G>A	GRCh37
NC_000011.8:g.6371850G>A	NCBI36
NG_011780.1:g.8620G>A
NG_029615.1:g.30371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486+3G>A MANE Select	ENSP00000340409.4:n.1486+3G>A
ENST00000342245.8:c.1486+3G>A	ENSP00000340409.4:n.1486+3G>A
ENST00000526280.1:c.543+3G>A
ENST00000527275.5:c.1483+3G>A	ENSP00000435350.1:n.1483+3G>A
ENST00000531303.5:c.*317+3G>A	ENSP00000432625.1:n.*317+3G>A
ENST00000531336.1:n.321G>A
ENST00000532367.1:n.325G>A
ENST00000533123.5:c.*213+3G>A	ENSP00000435950.1:n.*213+3G>A
ENST00000534405.5:c.*317+3G>A	ENSP00000434353.1:n.*317+3G>A
NM_000543.4:c.1486+3G>A	NP_000534.3:n.1486+3G>A
NM_001007593.2:c.1483+3G>A	NP_001007594.2:n.1483+3G>A
XM_005253075.3:c.1486+3G>A	XP_005253132.1:n.1486+3G>A
XM_011520303.1:c.1354+3G>A	XP_011518605.1:n.1354+3G>A
XM_011520304.1:c.1354+3G>A	XP_011518606.1:n.1354+3G>A
NM_001318087.1:c.1486+3G>A	NP_001305016.1:n.1486+3G>A
NM_001318088.1:c.565+3G>A	NP_001305017.1:n.565+3G>A
NM_001365135.1:c.1354+3G>A	NP_001352064.1:n.1354+3G>A
NR_027400.2:n.1499+3G>A
NR_134502.1:n.1018+3G>A
XM_011520304.2:c.1354+3G>A	XP_011518606.1:n.1354+3G>A
XR_001747940.2:n.1651+3G>A
XR_002957158.1:n.1853+3G>A
NM_000543.5:c.1486+3G>A MANE Select	NP_000534.3:n.1486+3G>A
NM_001007593.3:c.1483+3G>A	NP_001007594.2:n.1483+3G>A
NM_001318087.2:c.1486+3G>A	NP_001305016.1:n.1486+3G>A
NM_001318088.2:c.565+3G>A	NP_001305017.1:n.565+3G>A
NM_001365135.2:c.1354+3G>A	NP_001352064.1:n.1354+3G>A
NR_027400.3:n.1439+3G>A
NR_134502.2:n.958+3G>A