Canonical Allele Identifier: CA217303143

Gene: SMPD1

Linked Data

• dbSNP Id: rs978969426
• gnomAD v2: 11-6415964-G-A
• gnomAD v3: 11-6394734-G-A
• gnomAD v4: 11-6394734-G-A
• MyVariant Identifiers: chr11:g.6415964G>A (hg19) ; chr11:g.6394734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394734G>A , CM000673.2:g.6394734G>A	GRCh38
NC_000011.9:g.6415964G>A , CM000673.1:g.6415964G>A	GRCh37
NC_000011.8:g.6372540G>A	NCBI36
NG_011780.1:g.9310G>A
NG_029615.1:g.29681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*127G>A MANE Select	ENSP00000340409.4:n.*127G>A
ENST00000342245.8:c.*127G>A	ENSP00000340409.4:n.*127G>A
ENST00000526280.1:c.1080G>A
ENST00000527275.5:c.*127G>A	ENSP00000435350.1:n.*127G>A
ENST00000531303.5:c.*874G>A	ENSP00000432625.1:n.*874G>A
ENST00000533123.5:c.*750G>A	ENSP00000435950.1:n.*750G>A
ENST00000534405.5:c.*854G>A	ENSP00000434353.1:n.*854G>A
NM_000543.4:c.*127G>A	NP_000534.3:n.*127G>A
NM_001007593.2:c.*127G>A	NP_001007594.2:n.*127G>A
XM_011520303.1:c.*127G>A	XP_011518605.1:n.*127G>A
NM_001318087.1:c.*516G>A	NP_001305016.1:n.*516G>A
NM_001318088.1:c.*127G>A	NP_001305017.1:n.*127G>A
NM_001365135.1:c.*127G>A	NP_001352064.1:n.*127G>A
NR_027400.2:n.2036G>A
NR_134502.1:n.1575G>A
XR_001747940.2:n.2208G>A
XR_002957158.1:n.2390G>A
NM_000543.5:c.*127G>A MANE Select	NP_000534.3:n.*127G>A
NM_001007593.3:c.*127G>A	NP_001007594.2:n.*127G>A
NM_001318087.2:c.*516G>A	NP_001305016.1:n.*516G>A
NM_001318088.2:c.*127G>A	NP_001305017.1:n.*127G>A
NM_001365135.2:c.*127G>A	NP_001352064.1:n.*127G>A
NR_027400.3:n.1976G>A
NR_134502.2:n.1515G>A