Canonical Allele Identifier: CA217303170

Gene: SMPD1

Linked Data

• dbSNP Id: rs1801044
• gnomAD v4: 11-6394824-G-A
• MyVariant Identifiers: chr11:g.6416054G>A (hg19) ; chr11:g.6394824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394824G>A , CM000673.2:g.6394824G>A	GRCh38
NC_000011.9:g.6416054G>A , CM000673.1:g.6416054G>A	GRCh37
NC_000011.8:g.6372630G>A	NCBI36
NG_011780.1:g.9400G>A
NG_029615.1:g.29591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*217G>A MANE Select	ENSP00000340409.4:n.*217G>A
ENST00000342245.8:c.*217G>A	ENSP00000340409.4:n.*217G>A
ENST00000526280.1:c.1170G>A
ENST00000533123.5:c.*840G>A	ENSP00000435950.1:n.*840G>A
ENST00000534405.5:c.*944G>A	ENSP00000434353.1:n.*944G>A
NM_000543.4:c.*217G>A	NP_000534.3:n.*217G>A
NM_001007593.2:c.*217G>A	NP_001007594.2:n.*217G>A
XM_011520303.1:c.*217G>A	XP_011518605.1:n.*217G>A
NM_001318087.1:c.*606G>A	NP_001305016.1:n.*606G>A
NM_001318088.1:c.*217G>A	NP_001305017.1:n.*217G>A
NM_001365135.1:c.*217G>A	NP_001352064.1:n.*217G>A
NR_027400.2:n.2126G>A
NR_134502.1:n.1665G>A
XR_001747940.2:n.2298G>A
XR_002957158.1:n.2480G>A
NM_000543.5:c.*217G>A MANE Select	NP_000534.3:n.*217G>A
NM_001007593.3:c.*217G>A	NP_001007594.2:n.*217G>A
NM_001318087.2:c.*606G>A	NP_001305016.1:n.*606G>A
NM_001318088.2:c.*217G>A	NP_001305017.1:n.*217G>A
NM_001365135.2:c.*217G>A	NP_001352064.1:n.*217G>A
NR_027400.3:n.2066G>A
NR_134502.2:n.1605G>A