Canonical Allele Identifier: CA2612223392

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394025-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394026dup , CM000673.2:g.6394026dup	GRCh38
NC_000011.9:g.6415256dup , CM000673.1:g.6415256dup	GRCh37
NC_000011.8:g.6371832dup	NCBI36
NG_011780.1:g.8602dup
NG_029615.1:g.30389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1471dup MANE Select	ENSP00000340409.4:p.Ile491AsnfsTer4
ENST00000342245.8:c.1471dup	ENSP00000340409.4:p.Ile491AsnfsTer4
ENST00000526280.1:c.528dup
ENST00000527275.5:c.1468dup	ENSP00000435350.1:p.Ile490AsnfsTer4
ENST00000531303.5:c.*302dup	ENSP00000432625.1:n.*302dup
ENST00000531336.1:n.303dup
ENST00000532367.1:n.307dup
ENST00000533123.5:c.*198dup	ENSP00000435950.1:n.*198dup
ENST00000534405.5:c.*302dup	ENSP00000434353.1:n.*302dup
NM_000543.4:c.1471dup	NP_000534.3:p.Ile491AsnfsTer4
NM_001007593.2:c.1468dup	NP_001007594.2:p.Ile490AsnfsTer4
XM_005253075.3:c.1471dup	XP_005253132.1:p.Ile491AsnfsTer4
XM_011520303.1:c.1339dup	XP_011518605.1:p.Ile447AsnfsTer4
XM_011520304.1:c.1339dup	XP_011518606.1:p.Ile447AsnfsTer4
NM_001318087.1:c.1471dup	NP_001305016.1:p.Ile491AsnfsTer4
NM_001318088.1:c.550dup	NP_001305017.1:p.Ile184AsnfsTer4
NM_001365135.1:c.1339dup	NP_001352064.1:p.Ile447AsnfsTer4
NR_027400.2:n.1484dup
NR_134502.1:n.1003dup
XM_011520304.2:c.1339dup	XP_011518606.1:p.Ile447AsnfsTer4
XR_001747940.2:n.1636dup
XR_002957158.1:n.1838dup
NM_000543.5:c.1471dup MANE Select	NP_000534.3:p.Ile491AsnfsTer4
NM_001007593.3:c.1468dup	NP_001007594.2:p.Ile490AsnfsTer4
NM_001318087.2:c.1471dup	NP_001305016.1:p.Ile491AsnfsTer4
NM_001318088.2:c.550dup	NP_001305017.1:p.Ile184AsnfsTer4
NM_001365135.2:c.1339dup	NP_001352064.1:p.Ile447AsnfsTer4
NR_027400.3:n.1424dup
NR_134502.2:n.943dup