Canonical Allele Identifier: CA472910429

Gene: SMPD1

Linked Data

• dbSNP Id: rs1177537478
• gnomAD v2: 11-6415768-C-T
• gnomAD v4: 11-6394538-C-T
• MyVariant Identifiers: chr11:g.6415768C>T (hg19) ; chr11:g.6394538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394538C>T , CM000673.2:g.6394538C>T	GRCh38
NC_000011.9:g.6415768C>T , CM000673.1:g.6415768C>T	GRCh37
NC_000011.8:g.6372344C>T	NCBI36
NG_011780.1:g.9114C>T
NG_029615.1:g.29877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1827C>T MANE Select	ENSP00000340409.4:p.Cys609=
ENST00000342245.8:c.1827C>T	ENSP00000340409.4:p.Cys609=
ENST00000526280.1:c.884C>T
ENST00000527275.5:c.1824C>T	ENSP00000435350.1:p.Cys608=
ENST00000531303.5:c.*678C>T	ENSP00000432625.1:n.*678C>T
ENST00000533123.5:c.*554C>T	ENSP00000435950.1:n.*554C>T
ENST00000534405.5:c.*658C>T	ENSP00000434353.1:n.*658C>T
NM_000543.4:c.1827C>T	NP_000534.3:p.Cys609=
NM_001007593.2:c.1824C>T	NP_001007594.2:p.Cys608=
XM_005253075.3:c.*320C>T	XP_005253132.1:n.*320C>T
XM_011520303.1:c.1695C>T	XP_011518605.1:p.Cys565=
XM_011520304.1:c.*320C>T	XP_011518606.1:n.*320C>T
NM_001318087.1:c.*320C>T	NP_001305016.1:n.*320C>T
NM_001318088.1:c.906C>T	NP_001305017.1:p.Cys302=
NM_001365135.1:c.1695C>T	NP_001352064.1:p.Cys565=
NR_027400.2:n.1840C>T
NR_134502.1:n.1379C>T
XM_011520304.2:c.*320C>T	XP_011518606.1:n.*320C>T
XR_001747940.2:n.2012C>T
XR_002957158.1:n.2194C>T
NM_000543.5:c.1827C>T MANE Select	NP_000534.3:p.Cys609=
NM_001007593.3:c.1824C>T	NP_001007594.2:p.Cys608=
NM_001318087.2:c.*320C>T	NP_001305016.1:n.*320C>T
NM_001318088.2:c.906C>T	NP_001305017.1:p.Cys302=
NM_001365135.2:c.1695C>T	NP_001352064.1:p.Cys565=
NR_027400.3:n.1780C>T
NR_134502.2:n.1319C>T