Canonical Allele Identifier: CA472910315

Gene: SMPD1

Linked Data

• dbSNP Id: rs1590748054
• MyVariant Identifiers: chr11:g.6415525A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394295A>C , CM000673.2:g.6394295A>C	GRCh38
NC_000011.9:g.6415525A>C , CM000673.1:g.6415525A>C	GRCh37
NC_000011.8:g.6372101A>C	NCBI36
NG_011780.1:g.8871A>C
NG_029615.1:g.30120T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1584A>C MANE Select	ENSP00000340409.4:p.Ile528=
ENST00000342245.8:c.1584A>C	ENSP00000340409.4:p.Ile528=
ENST00000526280.1:c.641A>C
ENST00000527275.5:c.1581A>C	ENSP00000435350.1:p.Ile527=
ENST00000531303.5:c.*435A>C	ENSP00000432625.1:n.*435A>C
ENST00000531336.1:n.572A>C
ENST00000533123.5:c.*311A>C	ENSP00000435950.1:n.*311A>C
ENST00000534405.5:c.*415A>C	ENSP00000434353.1:n.*415A>C
NM_000543.4:c.1584A>C	NP_000534.3:p.Ile528=
NM_001007593.2:c.1581A>C	NP_001007594.2:p.Ile527=
XM_005253075.3:c.*77A>C	XP_005253132.1:n.*77A>C
XM_011520303.1:c.1452A>C	XP_011518605.1:p.Ile484=
XM_011520304.1:c.*77A>C	XP_011518606.1:n.*77A>C
NM_001318087.1:c.*77A>C	NP_001305016.1:n.*77A>C
NM_001318088.1:c.663A>C	NP_001305017.1:p.Ile221=
NM_001365135.1:c.1452A>C	NP_001352064.1:p.Ile484=
NR_027400.2:n.1597A>C
NR_134502.1:n.1136A>C
XM_011520304.2:c.*77A>C	XP_011518606.1:n.*77A>C
XR_001747940.2:n.1769A>C
XR_002957158.1:n.1951A>C
NM_000543.5:c.1584A>C MANE Select	NP_000534.3:p.Ile528=
NM_001007593.3:c.1581A>C	NP_001007594.2:p.Ile527=
NM_001318087.2:c.*77A>C	NP_001305016.1:n.*77A>C
NM_001318088.2:c.663A>C	NP_001305017.1:p.Ile221=
NM_001365135.2:c.1452A>C	NP_001352064.1:p.Ile484=
NR_027400.3:n.1537A>C
NR_134502.2:n.1076A>C