Canonical Allele Identifier: CA472910081

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848091028
• gnomAD v3: 11-6394362-C-T
• gnomAD v4: 11-6394362-C-T
• MyVariant Identifiers: chr11:g.6415592C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394362C>T , CM000673.2:g.6394362C>T	GRCh38
NC_000011.9:g.6415592C>T , CM000673.1:g.6415592C>T	GRCh37
NC_000011.8:g.6372168C>T	NCBI36
NG_011780.1:g.8938C>T
NG_029615.1:g.30053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1651C>T MANE Select	ENSP00000340409.4:p.Leu551=
ENST00000342245.8:c.1651C>T	ENSP00000340409.4:p.Leu551=
ENST00000526280.1:c.708C>T
ENST00000527275.5:c.1648C>T	ENSP00000435350.1:p.Leu550=
ENST00000531303.5:c.*502C>T	ENSP00000432625.1:n.*502C>T
ENST00000531336.1:n.639C>T
ENST00000533123.5:c.*378C>T	ENSP00000435950.1:n.*378C>T
ENST00000534405.5:c.*482C>T	ENSP00000434353.1:n.*482C>T
NM_000543.4:c.1651C>T	NP_000534.3:p.Leu551=
NM_001007593.2:c.1648C>T	NP_001007594.2:p.Leu550=
XM_005253075.3:c.*144C>T	XP_005253132.1:n.*144C>T
XM_011520303.1:c.1519C>T	XP_011518605.1:p.Leu507=
XM_011520304.1:c.*144C>T	XP_011518606.1:n.*144C>T
NM_001318087.1:c.*144C>T	NP_001305016.1:n.*144C>T
NM_001318088.1:c.730C>T	NP_001305017.1:p.Leu244=
NM_001365135.1:c.1519C>T	NP_001352064.1:p.Leu507=
NR_027400.2:n.1664C>T
NR_134502.1:n.1203C>T
XM_011520304.2:c.*144C>T	XP_011518606.1:n.*144C>T
XR_001747940.2:n.1836C>T
XR_002957158.1:n.2018C>T
NM_000543.5:c.1651C>T MANE Select	NP_000534.3:p.Leu551=
NM_001007593.3:c.1648C>T	NP_001007594.2:p.Leu550=
NM_001318087.2:c.*144C>T	NP_001305016.1:n.*144C>T
NM_001318088.2:c.730C>T	NP_001305017.1:p.Leu244=
NM_001365135.2:c.1519C>T	NP_001352064.1:p.Leu507=
NR_027400.3:n.1604C>T
NR_134502.2:n.1143C>T