Canonical Allele Identifier: CA934769560

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848095789
• gnomAD v3: 11-6394442-T-TCG
• gnomAD v4: 11-6394442-T-TCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394442_6394443insCG , CM000673.2:g.6394442_6394443insCG	GRCh38
NC_000011.9:g.6415672_6415673insCG , CM000673.1:g.6415672_6415673insCG	GRCh37
NC_000011.8:g.6372248_6372249insCG	NCBI36
NG_011780.1:g.9018_9019insCG
NG_029615.1:g.29972_29973insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1731_1732insCG MANE Select	ENSP00000340409.4:p.Lys578ArgfsTer?
ENST00000342245.8:c.1731_1732insCG	ENSP00000340409.4:p.Lys578ArgfsTer?
ENST00000526280.1:c.788_789insCG
ENST00000527275.5:c.1728_1729insCG	ENSP00000435350.1:p.Lys577ArgfsTer?
ENST00000531303.5:c.*582_*583insCG	ENSP00000432625.1:n.*582_*583insCG
ENST00000533123.5:c.*458_*459insCG	ENSP00000435950.1:n.*458_*459insCG
ENST00000534405.5:c.*562_*563insCG	ENSP00000434353.1:n.*562_*563insCG
NM_000543.4:c.1731_1732insCG	NP_000534.3:p.Lys578ArgfsTer?
NM_001007593.2:c.1728_1729insCG	NP_001007594.2:p.Lys577ArgfsTer?
XM_005253075.3:c.*224_*225insCG	XP_005253132.1:n.*224_*225insCG
XM_011520303.1:c.1599_1600insCG	XP_011518605.1:p.Lys534ArgfsTer?
XM_011520304.1:c.*224_*225insCG	XP_011518606.1:n.*224_*225insCG
NM_001318087.1:c.*224_*225insCG	NP_001305016.1:n.*224_*225insCG
NM_001318088.1:c.810_811insCG	NP_001305017.1:p.Lys271ArgfsTer?
NM_001365135.1:c.1599_1600insCG	NP_001352064.1:p.Lys534ArgfsTer?
NR_027400.2:n.1744_1745insCG
NR_134502.1:n.1283_1284insCG
XM_011520304.2:c.*224_*225insCG	XP_011518606.1:n.*224_*225insCG
XR_001747940.2:n.1916_1917insCG
XR_002957158.1:n.2098_2099insCG
NM_000543.5:c.1731_1732insCG MANE Select	NP_000534.3:p.Lys578ArgfsTer?
NM_001007593.3:c.1728_1729insCG	NP_001007594.2:p.Lys577ArgfsTer?
NM_001318087.2:c.*224_*225insCG	NP_001305016.1:n.*224_*225insCG
NM_001318088.2:c.810_811insCG	NP_001305017.1:p.Lys271ArgfsTer?
NM_001365135.2:c.1599_1600insCG	NP_001352064.1:p.Lys534ArgfsTer?
NR_027400.3:n.1684_1685insCG
NR_134502.2:n.1223_1224insCG