Canonical Allele Identifier: CA597438259

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 556898
• ClinVar RCV Id: RCV000672963 ; RCV001388424
• dbSNP Id: rs1437508852
• gnomAD v2: 11-6415721-ACT-A
• gnomAD v3: 11-6394491-ACT-A
• gnomAD v4: 11-6394491-ACT-A
• MyVariant Identifiers: chr11:g.6415722_6415723del (hg19) ; chr11:g.6394494_6394495del (hg38) ; chr11:g.6394492_6394493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394494_6394495del , CM000673.2:g.6394494_6394495del	GRCh38
NC_000011.9:g.6415724_6415725del , CM000673.1:g.6415724_6415725del	GRCh37
NC_000011.8:g.6372300_6372301del	NCBI36
NG_011780.1:g.9070_9071del
NG_029615.1:g.29922_29923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1783_1784del MANE Select	ENSP00000340409.4:p.Ala597ProfsTer7
ENST00000342245.8:c.1783_1784del	ENSP00000340409.4:p.Ala597ProfsTer7
ENST00000526280.1:c.840_841del
ENST00000527275.5:c.1780_1781del	ENSP00000435350.1:p.Ala596ProfsTer7
ENST00000531303.5:c.*634_*635del	ENSP00000432625.1:n.*634_*635del
ENST00000533123.5:c.*510_*511del	ENSP00000435950.1:n.*510_*511del
ENST00000534405.5:c.*614_*615del	ENSP00000434353.1:n.*614_*615del
NM_000543.4:c.1783_1784del	NP_000534.3:p.Ala597ProfsTer7
NM_001007593.2:c.1780_1781del	NP_001007594.2:p.Ala596ProfsTer7
XM_005253075.3:c.*276_*277del	XP_005253132.1:n.*276_*277del
XM_011520303.1:c.1651_1652del	XP_011518605.1:p.Ala553ProfsTer7
XM_011520304.1:c.*276_*277del	XP_011518606.1:n.*276_*277del
NM_001318087.1:c.*276_*277del	NP_001305016.1:n.*276_*277del
NM_001318088.1:c.862_863del	NP_001305017.1:p.Ala290ProfsTer7
NM_001365135.1:c.1651_1652del	NP_001352064.1:p.Ala553ProfsTer7
NR_027400.2:n.1796_1797del
NR_134502.1:n.1335_1336del
XM_011520304.2:c.*276_*277del	XP_011518606.1:n.*276_*277del
XR_001747940.2:n.1968_1969del
XR_002957158.1:n.2150_2151del
NM_000543.5:c.1783_1784del MANE Select	NP_000534.3:p.Ala597ProfsTer7
NM_001007593.3:c.1780_1781del	NP_001007594.2:p.Ala596ProfsTer7
NM_001318087.2:c.*276_*277del	NP_001305016.1:n.*276_*277del
NM_001318088.2:c.862_863del	NP_001305017.1:p.Ala290ProfsTer7
NM_001365135.2:c.1651_1652del	NP_001352064.1:p.Ala553ProfsTer7
NR_027400.3:n.1736_1737del
NR_134502.2:n.1275_1276del