Canonical Allele Identifier: CA379375999

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394237G>C , CM000673.2:g.6394237G>C	GRCh38
NC_000011.9:g.6415467G>C , CM000673.1:g.6415467G>C	GRCh37
NC_000011.8:g.6372043G>C	NCBI36
NG_011780.1:g.8813G>C
NG_029615.1:g.30178C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1526G>C MANE Select	NP_000534.3:p.Ser509Thr
ENST00000342245.9:c.1526G>C MANE Select	ENSP00000340409.4:p.Ser509Thr
NM_000543.4:c.1526G>C	NP_000534.3:p.Ser509Thr
NM_001007593.2:c.1523G>C	NP_001007594.2:p.Ser508Thr
NM_001007593.3:c.1523G>C	NP_001007594.2:p.Ser508Thr
NM_001318087.1:c.*19G>C	NP_001305016.1:n.*19G>C
NM_001318087.2:c.*19G>C	NP_001305016.1:n.*19G>C
NM_001318088.1:c.605G>C	NP_001305017.1:p.Ser202Thr
NM_001318088.2:c.605G>C	NP_001305017.1:p.Ser202Thr
NM_001365135.1:c.1394G>C	NP_001352064.1:p.Ser465Thr
NM_001365135.2:c.1394G>C	NP_001352064.1:p.Ser465Thr
NR_027400.2:n.1539G>C
NR_027400.3:n.1479G>C
NR_134502.1:n.1078G>C
NR_134502.2:n.1018G>C
ENST00000342245.8:c.1526G>C	ENSP00000340409.4:p.Ser509Thr
ENST00000526280.1:c.583G>C
ENST00000527275.5:c.1523G>C	ENSP00000435350.1:p.Ser508Thr
ENST00000531303.5:c.*377G>C	ENSP00000432625.1:n.*377G>C
ENST00000531336.1:n.514G>C
ENST00000533123.5:c.*253G>C	ENSP00000435950.1:n.*253G>C
ENST00000534405.5:c.*357G>C	ENSP00000434353.1:n.*357G>C
XM_005253075.3:c.*19G>C	XP_005253132.1:n.*19G>C
XM_011520303.1:c.1394G>C	XP_011518605.1:p.Ser465Thr
XM_011520304.1:c.*19G>C	XP_011518606.1:n.*19G>C
XM_011520304.2:c.*19G>C	XP_011518606.1:n.*19G>C
XR_001747940.2:n.1711G>C
XR_002957158.1:n.1893G>C