Canonical Allele Identifier: CA5852842

Gene: SMPD1

Linked Data

• dbSNP Id: rs780354242
• ExAC: 11:6414831 TA / T
• gnomAD v2: 11-6414831-TA-T
• gnomAD v3: 11-6393601-TA-T
• gnomAD v4: 11-6393601-TA-T
• MyVariant Identifiers: chr11:g.6414832del (hg19) ; chr11:g.6393602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393603del , CM000673.2:g.6393603del	GRCh38
NC_000011.9:g.6414833del , CM000673.1:g.6414833del	GRCh37
NC_000011.8:g.6371409del	NCBI36
NG_011780.1:g.8179del
NG_029615.1:g.30813del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1264-14del MANE Select	ENSP00000340409.4:n.1264-14del
ENST00000342245.8:c.1264-14del	ENSP00000340409.4:n.1264-14del
ENST00000526280.1:c.321-14del
ENST00000527275.5:c.1261-14del	ENSP00000435350.1:n.1261-14del
ENST00000531303.5:c.*95-14del	ENSP00000432625.1:n.*95-14del
ENST00000531336.1:n.96-14del
ENST00000532367.1:n.86del
ENST00000533123.5:c.1092-14del	ENSP00000435950.1:n.1092-14del
ENST00000534405.5:c.*95-14del	ENSP00000434353.1:n.*95-14del
NM_000543.4:c.1264-14del	NP_000534.3:n.1264-14del
NM_001007593.2:c.1261-14del	NP_001007594.2:n.1261-14del
XM_005253075.3:c.1264-14del	XP_005253132.1:n.1264-14del
XM_011520303.1:c.1132-14del	XP_011518605.1:n.1132-14del
XM_011520304.1:c.1132-14del	XP_011518606.1:n.1132-14del
XR_930886.1:n.1602-14del
NM_001318087.1:c.1264-14del	NP_001305016.1:n.1264-14del
NM_001318088.1:c.343-14del	NP_001305017.1:n.343-14del
NM_001365135.1:c.1132-14del	NP_001352064.1:n.1132-14del
NR_027400.2:n.1277-14del
NR_134502.1:n.796-14del
XM_011520304.2:c.1132-14del	XP_011518606.1:n.1132-14del
XR_001747940.2:n.1429-14del
XR_002957158.1:n.1429-14del
NM_000543.5:c.1264-14del MANE Select	NP_000534.3:n.1264-14del
NM_001007593.3:c.1261-14del	NP_001007594.2:n.1261-14del
NM_001318087.2:c.1264-14del	NP_001305016.1:n.1264-14del
NM_001318088.2:c.343-14del	NP_001305017.1:n.343-14del
NM_001365135.2:c.1132-14del	NP_001352064.1:n.1132-14del
NR_027400.3:n.1217-14del
NR_134502.2:n.736-14del