Canonical Allele Identifier: CA1950149311

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394200_6394213delinsTACCGTGTGTACCA , CM000673.2:g.6394200_6394213delinsTACCGTGTGTACCA	GRCh38
NC_000011.9:g.6415430_6415443delinsTACCGTGTGTACCA , CM000673.1:g.6415430_6415443delinsTACCGTGTGTACCA	GRCh37
NC_000011.8:g.6372006_6372019delinsTACCGTGTGTACCA	NCBI36
NG_011780.1:g.8776_8789delinsTACCGTGTGTACCA
NG_029615.1:g.30202_30215delinsTGGTACACACGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1489_1502delinsTACCGTGTGTACCA MANE Select	ENSP00000340409.4:p.Tyr497=
ENST00000342245.8:c.1489_1502delinsTACCGTGTGTACCA	ENSP00000340409.4:p.Tyr497=
ENST00000526280.1:c.546_559delinsTACCGTGTGTACCA
ENST00000527275.5:c.1486_1499delinsTACCGTGTGTACCA	ENSP00000435350.1:p.Tyr496=
ENST00000531303.5:c.*340_*353delinsTACCGTGTGTACCA	ENSP00000432625.1:n.*340_*353delinsTACCGTGTGTACCA
ENST00000531336.1:n.477_490delinsTACCGTGTGTACCA
ENST00000533123.5:c.*216_*229delinsTACCGTGTGTACCA	ENSP00000435950.1:n.*216_*229delinsTACCGTGTGTACCA
ENST00000534405.5:c.*320_*333delinsTACCGTGTGTACCA	ENSP00000434353.1:n.*320_*333delinsTACCGTGTGTACCA
NM_000543.4:c.1489_1502delinsTACCGTGTGTACCA	NP_000534.3:p.Tyr497=
NM_001007593.2:c.1486_1499delinsTACCGTGTGTACCA	NP_001007594.2:p.Tyr496=
XM_005253075.3:c.1509_1522delinsTACCGTGTGTACCA	XP_005253132.1:p.Val503=
XM_011520303.1:c.1357_1370delinsTACCGTGTGTACCA	XP_011518605.1:p.Tyr453=
XM_011520304.1:c.1377_1390delinsTACCGTGTGTACCA	XP_011518606.1:p.Val459=
NM_001318087.1:c.1509_1522delinsTACCGTGTGTACCA	NP_001305016.1:p.Val503=
NM_001318088.1:c.568_581delinsTACCGTGTGTACCA	NP_001305017.1:p.Tyr190=
NM_001365135.1:c.1357_1370delinsTACCGTGTGTACCA	NP_001352064.1:p.Tyr453=
NR_027400.2:n.1502_1515delinsTACCGTGTGTACCA
NR_134502.1:n.1041_1054delinsTACCGTGTGTACCA
XM_011520304.2:c.1377_1390delinsTACCGTGTGTACCA	XP_011518606.1:p.Val459=
XR_001747940.2:n.1674_1687delinsTACCGTGTGTACCA
XR_002957158.1:n.1856_1869delinsTACCGTGTGTACCA
NM_000543.5:c.1489_1502delinsTACCGTGTGTACCA MANE Select	NP_000534.3:p.Tyr497=
NM_001007593.3:c.1486_1499delinsTACCGTGTGTACCA	NP_001007594.2:p.Tyr496=
NM_001318087.2:c.1509_1522delinsTACCGTGTGTACCA	NP_001305016.1:p.Val503=
NM_001318088.2:c.568_581delinsTACCGTGTGTACCA	NP_001305017.1:p.Tyr190=
NM_001365135.2:c.1357_1370delinsTACCGTGTGTACCA	NP_001352064.1:p.Tyr453=
NR_027400.3:n.1442_1455delinsTACCGTGTGTACCA
NR_134502.2:n.981_994delinsTACCGTGTGTACCA