Canonical Allele Identifier: CA1950146433

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847943482

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391992_6391997dup , CM000673.2:g.6391992_6391997dup	GRCh38
NC_000011.9:g.6413222_6413227dup , CM000673.1:g.6413222_6413227dup	GRCh37
NC_000011.8:g.6369798_6369803dup	NCBI36
NG_011780.1:g.6568_6573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.927_932dup MANE Select	ENSP00000340409.4:p.Pro311_Val312insGlyPro
ENST00000342245.8:c.927_932dup	ENSP00000340409.4:p.Pro311_Val312insGlyPro
ENST00000526280.1:c.116_121dup
ENST00000527275.5:c.924_929dup	ENSP00000435350.1:p.Pro310_Val311insGlyPro
ENST00000530395.1:c.108_113dup	ENSP00000431479.1:p.Pro38_Val39insGlyPro
ENST00000531303.5:c.438+489_438+494dup	ENSP00000432625.1:n.438+489_438+494dup
ENST00000533123.5:c.927_932dup	ENSP00000435950.1:p.Pro311_Val312insGlyPro
ENST00000533196.1:n.375-14_375-9dup
ENST00000534405.5:c.927_932dup	ENSP00000434353.1:p.Pro311_Val312insGlyPro
NM_000543.4:c.927_932dup	NP_000534.3:p.Pro311_Val312insGlyPro
NM_001007593.2:c.924_929dup	NP_001007594.2:p.Pro310_Val311insGlyPro
XM_005253075.3:c.927_932dup	XP_005253132.1:p.Pro311_Val312insGlyPro
XM_011520303.1:c.927_932dup	XP_011518605.1:p.Pro311_Val312insGlyPro
XM_011520304.1:c.927_932dup	XP_011518606.1:p.Pro311_Val312insGlyPro
XR_930886.1:n.1225_1230dup
NM_001318087.1:c.927_932dup	NP_001305016.1:p.Pro311_Val312insGlyPro
NM_001318088.1:c.-35_-30dup	NP_001305017.1:n.-35_-30dup
NM_001365135.1:c.927_932dup	NP_001352064.1:p.Pro311_Val312insGlyPro
NR_027400.2:n.1112_1117dup
NR_134502.1:n.623+489_623+494dup
XM_011520304.2:c.927_932dup	XP_011518606.1:p.Pro311_Val312insGlyPro
XR_001747940.2:n.1052_1057dup
XR_002957158.1:n.1052_1057dup
NM_000543.5:c.927_932dup MANE Select	NP_000534.3:p.Pro311_Val312insGlyPro
NM_001007593.3:c.924_929dup	NP_001007594.2:p.Pro310_Val311insGlyPro
NM_001318087.2:c.927_932dup	NP_001305016.1:p.Pro311_Val312insGlyPro
NM_001318088.2:c.-35_-30dup	NP_001305017.1:n.-35_-30dup
NM_001365135.2:c.927_932dup	NP_001352064.1:p.Pro311_Val312insGlyPro
NR_027400.3:n.1052_1057dup
NR_134502.2:n.563+489_563+494dup