Canonical Allele Identifier: CA934779175

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6390513-G-GCGTCTCACTCTGT
• gnomAD v4: 11-6390513-G-GCGTCTCACTCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390515_6390516insTCTCACTCTGTCG , CM000673.2:g.6390515_6390516insTCTCACTCTGTCG	GRCh38
NC_000011.9:g.6411745_6411746insTCTCACTCTGTCG , CM000673.1:g.6411745_6411746insTCTCACTCTGTCG	GRCh37
NC_000011.8:g.6368321_6368322insTCTCACTCTGTCG	NCBI36
NG_011780.1:g.5091_5092insTCTCACTCTGTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-84_-83insTCTCACTCTGTCG MANE Select	ENSP00000340409.4:n.-84_-83insTCTCACTCTGTCG
ENST00000342245.8:c.-84_-83insTCTCACTCTGTCG	ENSP00000340409.4:n.-84_-83insTCTCACTCTGTCG
ENST00000527275.5:c.-84_-83insTCTCACTCTGTCG	ENSP00000435350.1:n.-84_-83insTCTCACTCTGTCG
ENST00000530395.1:c.-220_-219insTCTCACTCTGTCG	ENSP00000431479.1:n.-220_-219insTCTCACTCTGTCG
ENST00000533123.5:c.-84_-83insTCTCACTCTGTCG	ENSP00000435950.1:n.-84_-83insTCTCACTCTGTCG
ENST00000533196.1:n.76_77insTCTCACTCTGTCG
ENST00000534405.5:c.-84_-83insTCTCACTCTGTCG	ENSP00000434353.1:n.-84_-83insTCTCACTCTGTCG
NM_000543.4:c.-84_-83insTCTCACTCTGTCG	NP_000534.3:n.-84_-83insTCTCACTCTGTCG
NM_001007593.2:c.-84_-83insTCTCACTCTGTCG	NP_001007594.2:n.-84_-83insTCTCACTCTGTCG
XM_005253075.3:c.-84_-83insTCTCACTCTGTCG	XP_005253132.1:n.-84_-83insTCTCACTCTGTCG
XM_011520303.1:c.-84_-83insTCTCACTCTGTCG	XP_011518605.1:n.-84_-83insTCTCACTCTGTCG
XM_011520304.1:c.-84_-83insTCTCACTCTGTCG	XP_011518606.1:n.-84_-83insTCTCACTCTGTCG
XR_930886.1:n.215_216insTCTCACTCTGTCG
NM_001318087.1:c.-84_-83insTCTCACTCTGTCG	NP_001305016.1:n.-84_-83insTCTCACTCTGTCG
NM_001318088.1:c.-1045_-1044insTCTCACTCTGTCG	NP_001305017.1:n.-1045_-1044insTCTCACTCTGTCG
NM_001365135.1:c.-84_-83insTCTCACTCTGTCG	NP_001352064.1:n.-84_-83insTCTCACTCTGTCG
NR_027400.2:n.102_103insTCTCACTCTGTCG
NR_134502.1:n.102_103insTCTCACTCTGTCG
XM_011520304.2:c.-84_-83insTCTCACTCTGTCG	XP_011518606.1:n.-84_-83insTCTCACTCTGTCG
XR_001747940.2:n.42_43insTCTCACTCTGTCG
XR_002957158.1:n.42_43insTCTCACTCTGTCG
NM_000543.5:c.-84_-83insTCTCACTCTGTCG MANE Select	NP_000534.3:n.-84_-83insTCTCACTCTGTCG
NM_001007593.3:c.-84_-83insTCTCACTCTGTCG	NP_001007594.2:n.-84_-83insTCTCACTCTGTCG
NM_001318087.2:c.-84_-83insTCTCACTCTGTCG	NP_001305016.1:n.-84_-83insTCTCACTCTGTCG
NM_001318088.2:c.-1045_-1044insTCTCACTCTGTCG	NP_001305017.1:n.-1045_-1044insTCTCACTCTGTCG
NM_001365135.2:c.-84_-83insTCTCACTCTGTCG	NP_001352064.1:n.-84_-83insTCTCACTCTGTCG
NR_027400.3:n.42_43insTCTCACTCTGTCG
NR_134502.2:n.42_43insTCTCACTCTGTCG