Canonical Allele Identifier: CA934780005

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6391640-G-GCCCC
• gnomAD v4: 11-6391640-G-GCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391643_6391646dup , CM000673.2:g.6391643_6391646dup	GRCh38
NC_000011.9:g.6412873_6412876dup , CM000673.1:g.6412873_6412876dup	GRCh37
NC_000011.8:g.6369449_6369452dup	NCBI36
NG_011780.1:g.6219_6222dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.578_581dup MANE Select	ENSP00000340409.4:p.Ala195ProfsTer15
ENST00000342245.8:c.578_581dup	ENSP00000340409.4:p.Ala195ProfsTer15
ENST00000527275.5:c.575_578dup	ENSP00000435350.1:p.Ala194ProfsTer15
ENST00000530395.1:c.-95-147_-95-144dup	ENSP00000431479.1:n.-95-147_-95-144dup
ENST00000531303.5:c.438+140_438+143dup	ENSP00000432625.1:n.438+140_438+143dup
ENST00000533123.5:c.578_581dup	ENSP00000435950.1:p.Ala195ProfsTer15
ENST00000533196.1:n.375-363_375-360dup
ENST00000534405.5:c.578_581dup	ENSP00000434353.1:p.Ala195ProfsTer15
NM_000543.4:c.578_581dup	NP_000534.3:p.Ala195ProfsTer15
NM_001007593.2:c.575_578dup	NP_001007594.2:p.Ala194ProfsTer15
XM_005253075.3:c.578_581dup	XP_005253132.1:p.Ala195ProfsTer15
XM_011520303.1:c.578_581dup	XP_011518605.1:p.Ala195ProfsTer15
XM_011520304.1:c.578_581dup	XP_011518606.1:p.Ala195ProfsTer15
XR_930886.1:n.876_879dup
NM_001318087.1:c.578_581dup	NP_001305016.1:p.Ala195ProfsTer15
NM_001318088.1:c.-384_-381dup	NP_001305017.1:n.-384_-381dup
NM_001365135.1:c.578_581dup	NP_001352064.1:p.Ala195ProfsTer15
NR_027400.2:n.763_766dup
NR_134502.1:n.623+140_623+143dup
XM_011520304.2:c.578_581dup	XP_011518606.1:p.Ala195ProfsTer15
XR_001747940.2:n.703_706dup
XR_002957158.1:n.703_706dup
NM_000543.5:c.578_581dup MANE Select	NP_000534.3:p.Ala195ProfsTer15
NM_001007593.3:c.575_578dup	NP_001007594.2:p.Ala194ProfsTer15
NM_001318087.2:c.578_581dup	NP_001305016.1:p.Ala195ProfsTer15
NM_001318088.2:c.-384_-381dup	NP_001305017.1:n.-384_-381dup
NM_001365135.2:c.578_581dup	NP_001352064.1:p.Ala195ProfsTer15
NR_027400.3:n.703_706dup
NR_134502.2:n.563+140_563+143dup