Canonical Allele Identifier: CA2573147171

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1452689
• ClinVar RCV Id: RCV001999938
• dbSNP Id: rs2134009391

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391542_6391548dup , CM000673.2:g.6391542_6391548dup	GRCh38
NC_000011.9:g.6412772_6412778dup , CM000673.1:g.6412772_6412778dup	GRCh37
NC_000011.8:g.6369348_6369354dup	NCBI36
NG_011780.1:g.6118_6124dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.477_483dup MANE Select	ENSP00000340409.4:p.Leu162TrpfsTer?
ENST00000342245.8:c.477_483dup	ENSP00000340409.4:p.Leu162TrpfsTer?
ENST00000527275.5:c.474_480dup	ENSP00000435350.1:p.Leu161TrpfsTer?
ENST00000530395.1:c.-95-248_-95-242dup	ENSP00000431479.1:n.-95-248_-95-242dup
ENST00000531303.5:c.438+39_438+45dup	ENSP00000432625.1:n.438+39_438+45dup
ENST00000533123.5:c.477_483dup	ENSP00000435950.1:p.Leu162TrpfsTer?
ENST00000533196.1:n.375-464_375-458dup
ENST00000534405.5:c.477_483dup	ENSP00000434353.1:p.Leu162TrpfsTer?
NM_000543.4:c.477_483dup	NP_000534.3:p.Leu162TrpfsTer?
NM_001007593.2:c.474_480dup	NP_001007594.2:p.Leu161TrpfsTer?
XM_005253075.3:c.477_483dup	XP_005253132.1:p.Leu162TrpfsTer?
XM_011520303.1:c.477_483dup	XP_011518605.1:p.Leu162TrpfsTer?
XM_011520304.1:c.477_483dup	XP_011518606.1:p.Leu162TrpfsTer?
XR_930886.1:n.775_781dup
NM_001318087.1:c.477_483dup	NP_001305016.1:p.Leu162TrpfsTer?
NM_001318088.1:c.-485_-479dup	NP_001305017.1:n.-485_-479dup
NM_001365135.1:c.477_483dup	NP_001352064.1:p.Leu162TrpfsTer?
NR_027400.2:n.662_668dup
NR_134502.1:n.623+39_623+45dup
XM_011520304.2:c.477_483dup	XP_011518606.1:p.Leu162TrpfsTer?
XR_001747940.2:n.602_608dup
XR_002957158.1:n.602_608dup
NM_000543.5:c.477_483dup MANE Select	NP_000534.3:p.Leu162TrpfsTer?
NM_001007593.3:c.474_480dup	NP_001007594.2:p.Leu161TrpfsTer?
NM_001318087.2:c.477_483dup	NP_001305016.1:p.Leu162TrpfsTer?
NM_001318088.2:c.-485_-479dup	NP_001305017.1:n.-485_-479dup
NM_001365135.2:c.477_483dup	NP_001352064.1:p.Leu162TrpfsTer?
NR_027400.3:n.602_608dup
NR_134502.2:n.563+39_563+45dup