Canonical Allele Identifier: CA597263799

Gene: SMPD1

Linked Data

• gnomAD v2: 11-6413582-G-GTTT
• gnomAD v3: 11-6392352-G-GTTT
• gnomAD v4: 11-6392352-G-GTTT
• MyVariant Identifiers: chr11:g.6413582_6413583insTTT (hg19) ; chr11:g.6392352_6392353insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392353_6392355dup , CM000673.2:g.6392353_6392355dup	GRCh38
NC_000011.9:g.6413583_6413585dup , CM000673.1:g.6413583_6413585dup	GRCh37
NC_000011.8:g.6370159_6370161dup	NCBI36
NG_011780.1:g.6929_6931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+197_1091+199dup MANE Select	ENSP00000340409.4:n.1091+197_1091+199dup
ENST00000342245.8:c.1091+197_1091+199dup	ENSP00000340409.4:n.1091+197_1091+199dup
ENST00000526280.1:c.320+157_320+159dup
ENST00000527275.5:c.1088+197_1088+199dup	ENSP00000435350.1:n.1088+197_1088+199dup
ENST00000531303.5:c.438+850_438+852dup	ENSP00000432625.1:n.438+850_438+852dup
ENST00000533123.5:c.1091+197_1091+199dup	ENSP00000435950.1:n.1091+197_1091+199dup
ENST00000534405.5:c.1131+157_1131+159dup	ENSP00000434353.1:n.1131+157_1131+159dup
NM_000543.4:c.1091+197_1091+199dup	NP_000534.3:n.1091+197_1091+199dup
NM_001007593.2:c.1088+197_1088+199dup	NP_001007594.2:n.1088+197_1088+199dup
XM_005253075.3:c.1091+197_1091+199dup	XP_005253132.1:n.1091+197_1091+199dup
XM_011520303.1:c.1131+157_1131+159dup	XP_011518605.1:n.1131+157_1131+159dup
XM_011520304.1:c.1131+157_1131+159dup	XP_011518606.1:n.1131+157_1131+159dup
XR_930886.1:n.1429+157_1429+159dup
NM_001318087.1:c.1091+197_1091+199dup	NP_001305016.1:n.1091+197_1091+199dup
NM_001318088.1:c.170+157_170+159dup	NP_001305017.1:n.170+157_170+159dup
NM_001365135.1:c.1131+157_1131+159dup	NP_001352064.1:n.1131+157_1131+159dup
NR_027400.2:n.1276+197_1276+199dup
NR_134502.1:n.623+850_623+852dup
XM_011520304.2:c.1131+157_1131+159dup	XP_011518606.1:n.1131+157_1131+159dup
XR_001747940.2:n.1256+157_1256+159dup
XR_002957158.1:n.1256+157_1256+159dup
NM_000543.5:c.1091+197_1091+199dup MANE Select	NP_000534.3:n.1091+197_1091+199dup
NM_001007593.3:c.1088+197_1088+199dup	NP_001007594.2:n.1088+197_1088+199dup
NM_001318087.2:c.1091+197_1091+199dup	NP_001305016.1:n.1091+197_1091+199dup
NM_001318088.2:c.170+157_170+159dup	NP_001305017.1:n.170+157_170+159dup
NM_001365135.2:c.1131+157_1131+159dup	NP_001352064.1:n.1131+157_1131+159dup
NR_027400.3:n.1216+197_1216+199dup
NR_134502.2:n.563+850_563+852dup