Canonical Allele Identifier: CA2499221117

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1173984
• ClinVar RCV Id: RCV001527439
• dbSNP Id: rs2134012543

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391998_6392001delinsGAC , CM000673.2:g.6391998_6392001delinsGAC	GRCh38
NC_000011.9:g.6413228_6413231delinsGAC , CM000673.1:g.6413228_6413231delinsGAC	GRCh37
NC_000011.8:g.6369804_6369807delinsGAC	NCBI36
NG_011780.1:g.6574_6577delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.933_936delinsGAC MANE Select	ENSP00000340409.4:p.Val312ThrfsTer?
ENST00000342245.8:c.933_936delinsGAC	ENSP00000340409.4:p.Val312ThrfsTer?
ENST00000526280.1:c.122_125delinsGAC
ENST00000527275.5:c.930_933delinsGAC	ENSP00000435350.1:p.Val311ThrfsTer?
ENST00000530395.1:c.114_117delinsGAC	ENSP00000431479.1:p.Val39ThrfsTer?
ENST00000531303.5:c.438+495_438+498delinsGAC	ENSP00000432625.1:n.438+495_438+498delinsGAC
ENST00000533123.5:c.933_936delinsGAC	ENSP00000435950.1:p.Val312ThrfsTer?
ENST00000533196.1:n.375-8_375-5delinsGAC
ENST00000534405.5:c.933_936delinsGAC	ENSP00000434353.1:p.Val312ThrfsTer?
NM_000543.4:c.933_936delinsGAC	NP_000534.3:p.Val312ThrfsTer?
NM_001007593.2:c.930_933delinsGAC	NP_001007594.2:p.Val311ThrfsTer?
XM_005253075.3:c.933_936delinsGAC	XP_005253132.1:p.Val312ThrfsTer?
XM_011520303.1:c.933_936delinsGAC	XP_011518605.1:p.Val312ThrfsTer?
XM_011520304.1:c.933_936delinsGAC	XP_011518606.1:p.Val312ThrfsTer?
XR_930886.1:n.1231_1234delinsGAC
NM_001318087.1:c.933_936delinsGAC	NP_001305016.1:p.Val312ThrfsTer?
NM_001318088.1:c.-29_-26delinsGAC	NP_001305017.1:n.-29_-26delinsGAC
NM_001365135.1:c.933_936delinsGAC	NP_001352064.1:p.Val312ThrfsTer?
NR_027400.2:n.1118_1121delinsGAC
NR_134502.1:n.623+495_623+498delinsGAC
XM_011520304.2:c.933_936delinsGAC	XP_011518606.1:p.Val312ThrfsTer?
XR_001747940.2:n.1058_1061delinsGAC
XR_002957158.1:n.1058_1061delinsGAC
NM_000543.5:c.933_936delinsGAC MANE Select	NP_000534.3:p.Val312ThrfsTer?
NM_001007593.3:c.930_933delinsGAC	NP_001007594.2:p.Val311ThrfsTer?
NM_001318087.2:c.933_936delinsGAC	NP_001305016.1:p.Val312ThrfsTer?
NM_001318088.2:c.-29_-26delinsGAC	NP_001305017.1:n.-29_-26delinsGAC
NM_001365135.2:c.933_936delinsGAC	NP_001352064.1:p.Val312ThrfsTer?
NR_027400.3:n.1058_1061delinsGAC
NR_134502.2:n.563+495_563+498delinsGAC