Canonical Allele Identifier: CA2740093603

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2940777
• ClinVar RCV Id: RCV003800087

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391872del , CM000673.2:g.6391872del	GRCh38
NC_000011.9:g.6413102del , CM000673.1:g.6413102del	GRCh37
NC_000011.8:g.6369678del	NCBI36
NG_011780.1:g.6448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.807del MANE Select	ENSP00000340409.4:p.Gly270AlafsTer29
ENST00000342245.8:c.807del	ENSP00000340409.4:p.Gly270AlafsTer29
ENST00000527275.5:c.804del	ENSP00000435350.1:p.Gly269AlafsTer29
ENST00000530395.1:c.-13del	ENSP00000431479.1:n.-13del
ENST00000531303.5:c.438+369del	ENSP00000432625.1:n.438+369del
ENST00000533123.5:c.807del	ENSP00000435950.1:p.Gly270AlafsTer29
ENST00000533196.1:n.375-134del
ENST00000534405.5:c.807del	ENSP00000434353.1:p.Gly270AlafsTer29
NM_000543.4:c.807del	NP_000534.3:p.Gly270AlafsTer29
NM_001007593.2:c.804del	NP_001007594.2:p.Gly269AlafsTer29
XM_005253075.3:c.807del	XP_005253132.1:p.Gly270AlafsTer29
XM_011520303.1:c.807del	XP_011518605.1:p.Gly270AlafsTer29
XM_011520304.1:c.807del	XP_011518606.1:p.Gly270AlafsTer29
XR_930886.1:n.1105del
NM_001318087.1:c.807del	NP_001305016.1:p.Gly270AlafsTer29
NM_001318088.1:c.-155del	NP_001305017.1:n.-155del
NM_001365135.1:c.807del	NP_001352064.1:p.Gly270AlafsTer29
NR_027400.2:n.992del
NR_134502.1:n.623+369del
XM_011520304.2:c.807del	XP_011518606.1:p.Gly270AlafsTer29
XR_001747940.2:n.932del
XR_002957158.1:n.932del
NM_000543.5:c.807del MANE Select	NP_000534.3:p.Gly270AlafsTer29
NM_001007593.3:c.804del	NP_001007594.2:p.Gly269AlafsTer29
NM_001318087.2:c.807del	NP_001305016.1:p.Gly270AlafsTer29
NM_001318088.2:c.-155del	NP_001305017.1:n.-155del
NM_001365135.2:c.807del	NP_001352064.1:p.Gly270AlafsTer29
NR_027400.3:n.932del
NR_134502.2:n.563+369del