Canonical Allele Identifier: CA379375463

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394012G>A , CM000673.2:g.6394012G>A	GRCh38
NC_000011.9:g.6415242G>A , CM000673.1:g.6415242G>A	GRCh37
NC_000011.8:g.6371818G>A	NCBI36
NG_011780.1:g.8588G>A
NG_029615.1:g.30403C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1457G>A MANE Select	NP_000534.3:p.Ser486Asn
ENST00000342245.9:c.1457G>A MANE Select	ENSP00000340409.4:p.Ser486Asn
NM_000543.4:c.1457G>A	NP_000534.3:p.Ser486Asn
NM_001007593.2:c.1454G>A	NP_001007594.2:p.Ser485Asn
NM_001007593.3:c.1454G>A	NP_001007594.2:p.Ser485Asn
NM_001318087.1:c.1457G>A	NP_001305016.1:p.Ser486Asn
NM_001318087.2:c.1457G>A	NP_001305016.1:p.Ser486Asn
NM_001318088.1:c.536G>A	NP_001305017.1:p.Ser179Asn
NM_001318088.2:c.536G>A	NP_001305017.1:p.Ser179Asn
NM_001365135.1:c.1325G>A	NP_001352064.1:p.Ser442Asn
NM_001365135.2:c.1325G>A	NP_001352064.1:p.Ser442Asn
NR_027400.2:n.1470G>A
NR_027400.3:n.1410G>A
NR_134502.1:n.989G>A
NR_134502.2:n.929G>A
ENST00000342245.8:c.1457G>A	ENSP00000340409.4:p.Ser486Asn
ENST00000526280.1:c.514G>A
ENST00000527275.5:c.1454G>A	ENSP00000435350.1:p.Ser485Asn
ENST00000531303.5:c.*288G>A	ENSP00000432625.1:n.*288G>A
ENST00000531336.1:n.289G>A
ENST00000532367.1:n.293G>A
ENST00000533123.5:c.*184G>A	ENSP00000435950.1:n.*184G>A
ENST00000534405.5:c.*288G>A	ENSP00000434353.1:n.*288G>A
XM_005253075.3:c.1457G>A	XP_005253132.1:p.Ser486Asn
XM_011520303.1:c.1325G>A	XP_011518605.1:p.Ser442Asn
XM_011520304.1:c.1325G>A	XP_011518606.1:p.Ser442Asn
XM_011520304.2:c.1325G>A	XP_011518606.1:p.Ser442Asn
XR_001747940.2:n.1622G>A
XR_002957158.1:n.1824G>A
XR_930886.1:n.1795G>A