Canonical Allele Identifier: CA1950146212

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391601_6391603delinsCTT , CM000673.2:g.6391601_6391603delinsCTT	GRCh38
NC_000011.9:g.6412831_6412833delinsCTT , CM000673.1:g.6412831_6412833delinsCTT	GRCh37
NC_000011.8:g.6369407_6369409delinsCTT	NCBI36
NG_011780.1:g.6177_6179delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.536_538delinsCTT MANE Select	ENSP00000340409.4:p.Ser179=
ENST00000342245.8:c.536_538delinsCTT	ENSP00000340409.4:p.Ser179=
ENST00000527275.5:c.533_535delinsCTT	ENSP00000435350.1:p.Ser178=
ENST00000530395.1:c.-95-189_-95-187delinsCTT	ENSP00000431479.1:n.-95-189_-95-187delinsCTT
ENST00000531303.5:c.438+98_438+100delinsCTT	ENSP00000432625.1:n.438+98_438+100delinsCTT
ENST00000533123.5:c.536_538delinsCTT	ENSP00000435950.1:p.Ser179=
ENST00000533196.1:n.375-405_375-403delinsCTT
ENST00000534405.5:c.536_538delinsCTT	ENSP00000434353.1:p.Ser179=
NM_000543.4:c.536_538delinsCTT	NP_000534.3:p.Ser179=
NM_001007593.2:c.533_535delinsCTT	NP_001007594.2:p.Ser178=
XM_005253075.3:c.536_538delinsCTT	XP_005253132.1:p.Ser179=
XM_011520303.1:c.536_538delinsCTT	XP_011518605.1:p.Ser179=
XM_011520304.1:c.536_538delinsCTT	XP_011518606.1:p.Ser179=
XR_930886.1:n.834_836delinsCTT
NM_001318087.1:c.536_538delinsCTT	NP_001305016.1:p.Ser179=
NM_001318088.1:c.-426_-424delinsCTT	NP_001305017.1:n.-426_-424delinsCTT
NM_001365135.1:c.536_538delinsCTT	NP_001352064.1:p.Ser179=
NR_027400.2:n.721_723delinsCTT
NR_134502.1:n.623+98_623+100delinsCTT
XM_011520304.2:c.536_538delinsCTT	XP_011518606.1:p.Ser179=
XR_001747940.2:n.661_663delinsCTT
XR_002957158.1:n.661_663delinsCTT
NM_000543.5:c.536_538delinsCTT MANE Select	NP_000534.3:p.Ser179=
NM_001007593.3:c.533_535delinsCTT	NP_001007594.2:p.Ser178=
NM_001318087.2:c.536_538delinsCTT	NP_001305016.1:p.Ser179=
NM_001318088.2:c.-426_-424delinsCTT	NP_001305017.1:n.-426_-424delinsCTT
NM_001365135.2:c.536_538delinsCTT	NP_001352064.1:p.Ser179=
NR_027400.3:n.661_663delinsCTT
NR_134502.2:n.563+98_563+100delinsCTT