Canonical Allele Identifier: CA5852830

Gene: SMPD1

Linked Data

• dbSNP Id: rs750834271
• ExAC: 11:6414649 T / TG
• gnomAD v2: 11-6414649-T-TG
• gnomAD v4: 11-6393419-T-TG
• MyVariant Identifiers: chr11:g.6414649_6414650insG (hg19) ; chr11:g.6393419_6393420insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393424dup , CM000673.2:g.6393424dup	GRCh38
NC_000011.9:g.6414654dup , CM000673.1:g.6414654dup	GRCh37
NC_000011.8:g.6371230dup	NCBI36
NG_011780.1:g.8000dup
NG_029615.1:g.30995dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+37dup MANE Select	ENSP00000340409.4:n.1263+37dup
ENST00000342245.8:c.1263+37dup	ENSP00000340409.4:n.1263+37dup
ENST00000526280.1:c.321-193dup
ENST00000527275.5:c.1260+37dup	ENSP00000435350.1:n.1260+37dup
ENST00000531303.5:c.*94+37dup	ENSP00000432625.1:n.*94+37dup
ENST00000531336.1:n.95+37dup
ENST00000533123.5:c.1092-193dup	ENSP00000435950.1:n.1092-193dup
ENST00000534405.5:c.*94+37dup	ENSP00000434353.1:n.*94+37dup
NM_000543.4:c.1263+37dup	NP_000534.3:n.1263+37dup
NM_001007593.2:c.1260+37dup	NP_001007594.2:n.1260+37dup
XM_005253075.3:c.1263+37dup	XP_005253132.1:n.1263+37dup
XM_011520303.1:c.1132-193dup	XP_011518605.1:n.1132-193dup
XM_011520304.1:c.1132-193dup	XP_011518606.1:n.1132-193dup
XR_930886.1:n.1601+37dup
NM_001318087.1:c.1263+37dup	NP_001305016.1:n.1263+37dup
NM_001318088.1:c.342+37dup	NP_001305017.1:n.342+37dup
NM_001365135.1:c.1132-193dup	NP_001352064.1:n.1132-193dup
NR_027400.2:n.1277-193dup
NR_134502.1:n.795+37dup
XM_011520304.2:c.1132-193dup	XP_011518606.1:n.1132-193dup
XR_001747940.2:n.1428+37dup
XR_002957158.1:n.1428+37dup
NM_000543.5:c.1263+37dup MANE Select	NP_000534.3:n.1263+37dup
NM_001007593.3:c.1260+37dup	NP_001007594.2:n.1260+37dup
NM_001318087.2:c.1263+37dup	NP_001305016.1:n.1263+37dup
NM_001318088.2:c.342+37dup	NP_001305017.1:n.342+37dup
NM_001365135.2:c.1132-193dup	NP_001352064.1:n.1132-193dup
NR_027400.3:n.1217-193dup
NR_134502.2:n.735+37dup