Canonical Allele Identifier: CA2580083932

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1724224
• ClinVar RCV Id: RCV002306779

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393276del , CM000673.2:g.6393276del	GRCh38
NC_000011.9:g.6414506del , CM000673.1:g.6414506del	GRCh37
NC_000011.8:g.6371082del	NCBI36
NG_011780.1:g.7852del
NG_029615.1:g.31139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1152del MANE Select	ENSP00000340409.4:p.Met384IlefsTer12
ENST00000342245.8:c.1152del	ENSP00000340409.4:p.Met384IlefsTer12
ENST00000526280.1:c.321-341del
ENST00000527275.5:c.1149del	ENSP00000435350.1:p.Met383IlefsTer12
ENST00000531303.5:c.499del	ENSP00000432625.1:p.Glu167AsnfsTer?
ENST00000533123.5:c.1092-341del	ENSP00000435950.1:n.1092-341del
ENST00000534405.5:c.1192del	ENSP00000434353.1:p.Glu398AsnfsTer?
NM_000543.4:c.1152del	NP_000534.3:p.Met384IlefsTer12
NM_001007593.2:c.1149del	NP_001007594.2:p.Met383IlefsTer12
XM_005253075.3:c.1152del	XP_005253132.1:p.Met384IlefsTer12
XM_011520303.1:c.1132-341del	XP_011518605.1:n.1132-341del
XM_011520304.1:c.1132-341del	XP_011518606.1:n.1132-341del
XR_930886.1:n.1490del
NM_001318087.1:c.1152del	NP_001305016.1:p.Met384IlefsTer12
NM_001318088.1:c.231del	NP_001305017.1:p.Met77IlefsTer12
NM_001365135.1:c.1132-341del	NP_001352064.1:n.1132-341del
NR_027400.2:n.1277-341del
NR_134502.1:n.684del
XM_011520304.2:c.1132-341del	XP_011518606.1:n.1132-341del
XR_001747940.2:n.1317del
XR_002957158.1:n.1317del
NM_000543.5:c.1152del MANE Select	NP_000534.3:p.Met384IlefsTer12
NM_001007593.3:c.1149del	NP_001007594.2:p.Met383IlefsTer12
NM_001318087.2:c.1152del	NP_001305016.1:p.Met384IlefsTer12
NM_001318088.2:c.231del	NP_001305017.1:p.Met77IlefsTer12
NM_001365135.2:c.1132-341del	NP_001352064.1:n.1132-341del
NR_027400.3:n.1217-341del
NR_134502.2:n.624del