Canonical Allele Identifier: CA472910139

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415447A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394217A>C , CM000673.2:g.6394217A>C	GRCh38
NC_000011.9:g.6415447A>C , CM000673.1:g.6415447A>C	GRCh37
NC_000011.8:g.6372023A>C	NCBI36
NG_011780.1:g.8793A>C
NG_029615.1:g.30198T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1506A>C MANE Select	ENSP00000340409.4:p.Ile502=
ENST00000342245.8:c.1506A>C	ENSP00000340409.4:p.Ile502=
ENST00000526280.1:c.563A>C
ENST00000527275.5:c.1503A>C	ENSP00000435350.1:p.Ile501=
ENST00000531303.5:c.*357A>C	ENSP00000432625.1:n.*357A>C
ENST00000531336.1:n.494A>C
ENST00000533123.5:c.*233A>C	ENSP00000435950.1:n.*233A>C
ENST00000534405.5:c.*337A>C	ENSP00000434353.1:n.*337A>C
NM_000543.4:c.1506A>C	NP_000534.3:p.Ile502=
NM_001007593.2:c.1503A>C	NP_001007594.2:p.Ile501=
XM_005253075.3:c.1526A>C	XP_005253132.1:p.Ter509Ser
XM_011520303.1:c.1374A>C	XP_011518605.1:p.Ile458=
XM_011520304.1:c.1394A>C	XP_011518606.1:p.Ter465Ser
NM_001318087.1:c.1526A>C	NP_001305016.1:p.Ter509Ser
NM_001318088.1:c.585A>C	NP_001305017.1:p.Ile195=
NM_001365135.1:c.1374A>C	NP_001352064.1:p.Ile458=
NR_027400.2:n.1519A>C
NR_134502.1:n.1058A>C
XM_011520304.2:c.1394A>C	XP_011518606.1:p.Ter465Ser
XR_001747940.2:n.1691A>C
XR_002957158.1:n.1873A>C
NM_000543.5:c.1506A>C MANE Select	NP_000534.3:p.Ile502=
NM_001007593.3:c.1503A>C	NP_001007594.2:p.Ile501=
NM_001318087.2:c.1526A>C	NP_001305016.1:p.Ter509Ser
NM_001318088.2:c.585A>C	NP_001305017.1:p.Ile195=
NM_001365135.2:c.1374A>C	NP_001352064.1:p.Ile458=
NR_027400.3:n.1459A>C
NR_134502.2:n.998A>C