Canonical Allele Identifier: CA2740093616

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2943718
• ClinVar RCV Id: RCV003803276

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393900_6393903dup , CM000673.2:g.6393900_6393903dup	GRCh38
NC_000011.9:g.6415130_6415133dup , CM000673.1:g.6415130_6415133dup	GRCh37
NC_000011.8:g.6371706_6371709dup	NCBI36
NG_011780.1:g.8476_8479dup
NG_029615.1:g.30512_30515dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1345_1348dup MANE Select	ENSP00000340409.4:p.Asn450ArgfsTer16
ENST00000342245.8:c.1345_1348dup	ENSP00000340409.4:p.Asn450ArgfsTer16
ENST00000526280.1:c.402_405dup
ENST00000527275.5:c.1342_1345dup	ENSP00000435350.1:p.Asn449ArgfsTer16
ENST00000531303.5:c.*176_*179dup	ENSP00000432625.1:n.*176_*179dup
ENST00000531336.1:n.177_180dup
ENST00000532367.1:n.181_184dup
ENST00000533123.5:c.*72_*75dup	ENSP00000435950.1:n.*72_*75dup
ENST00000534405.5:c.*176_*179dup	ENSP00000434353.1:n.*176_*179dup
NM_000543.4:c.1345_1348dup	NP_000534.3:p.Asn450ArgfsTer16
NM_001007593.2:c.1342_1345dup	NP_001007594.2:p.Asn449ArgfsTer16
XM_005253075.3:c.1345_1348dup	XP_005253132.1:p.Asn450ArgfsTer16
XM_011520303.1:c.1213_1216dup	XP_011518605.1:p.Asn406ArgfsTer16
XM_011520304.1:c.1213_1216dup	XP_011518606.1:p.Asn406ArgfsTer16
XR_930886.1:n.1683_1686dup
NM_001318087.1:c.1345_1348dup	NP_001305016.1:p.Asn450ArgfsTer16
NM_001318088.1:c.424_427dup	NP_001305017.1:p.Asn143ArgfsTer16
NM_001365135.1:c.1213_1216dup	NP_001352064.1:p.Asn406ArgfsTer16
NR_027400.2:n.1358_1361dup
NR_134502.1:n.877_880dup
XM_011520304.2:c.1213_1216dup	XP_011518606.1:p.Asn406ArgfsTer16
XR_001747940.2:n.1510_1513dup
XR_002957158.1:n.1712_1715dup
NM_000543.5:c.1345_1348dup MANE Select	NP_000534.3:p.Asn450ArgfsTer16
NM_001007593.3:c.1342_1345dup	NP_001007594.2:p.Asn449ArgfsTer16
NM_001318087.2:c.1345_1348dup	NP_001305016.1:p.Asn450ArgfsTer16
NM_001318088.2:c.424_427dup	NP_001305017.1:p.Asn143ArgfsTer16
NM_001365135.2:c.1213_1216dup	NP_001352064.1:p.Asn406ArgfsTer16
NR_027400.3:n.1298_1301dup
NR_134502.2:n.817_820dup