Canonical Allele Identifier: CA2740093606

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2947091
• ClinVar RCV Id: RCV003801281

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393206_6393213dup , CM000673.2:g.6393206_6393213dup	GRCh38
NC_000011.9:g.6414436_6414443dup , CM000673.1:g.6414436_6414443dup	GRCh37
NC_000011.8:g.6371012_6371019dup	NCBI36
NG_011780.1:g.7782_7789dup
NG_029615.1:g.31203_31210dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-10_1092-3dup MANE Select	ENSP00000340409.4:n.1092-10_1092-3dup
ENST00000342245.8:c.1092-10_1092-3dup	ENSP00000340409.4:n.1092-10_1092-3dup
ENST00000526280.1:c.321-411_321-404dup
ENST00000527275.5:c.1089-10_1089-3dup	ENSP00000435350.1:n.1089-10_1089-3dup
ENST00000531303.5:c.439-10_439-3dup	ENSP00000432625.1:n.439-10_439-3dup
ENST00000533123.5:c.1092-411_1092-404dup	ENSP00000435950.1:n.1092-411_1092-404dup
ENST00000534405.5:c.1132-10_1132-3dup	ENSP00000434353.1:n.1132-10_1132-3dup
NM_000543.4:c.1092-10_1092-3dup	NP_000534.3:n.1092-10_1092-3dup
NM_001007593.2:c.1089-10_1089-3dup	NP_001007594.2:n.1089-10_1089-3dup
XM_005253075.3:c.1092-10_1092-3dup	XP_005253132.1:n.1092-10_1092-3dup
XM_011520303.1:c.1132-411_1132-404dup	XP_011518605.1:n.1132-411_1132-404dup
XM_011520304.1:c.1132-411_1132-404dup	XP_011518606.1:n.1132-411_1132-404dup
XR_930886.1:n.1430-10_1430-3dup
NM_001318087.1:c.1092-10_1092-3dup	NP_001305016.1:n.1092-10_1092-3dup
NM_001318088.1:c.171-10_171-3dup	NP_001305017.1:n.171-10_171-3dup
NM_001365135.1:c.1132-411_1132-404dup	NP_001352064.1:n.1132-411_1132-404dup
NR_027400.2:n.1277-411_1277-404dup
NR_134502.1:n.624-10_624-3dup
XM_011520304.2:c.1132-411_1132-404dup	XP_011518606.1:n.1132-411_1132-404dup
XR_001747940.2:n.1257-10_1257-3dup
XR_002957158.1:n.1257-10_1257-3dup
NM_000543.5:c.1092-10_1092-3dup MANE Select	NP_000534.3:n.1092-10_1092-3dup
NM_001007593.3:c.1089-10_1089-3dup	NP_001007594.2:n.1089-10_1089-3dup
NM_001318087.2:c.1092-10_1092-3dup	NP_001305016.1:n.1092-10_1092-3dup
NM_001318088.2:c.171-10_171-3dup	NP_001305017.1:n.171-10_171-3dup
NM_001365135.2:c.1132-411_1132-404dup	NP_001352064.1:n.1132-411_1132-404dup
NR_027400.3:n.1217-411_1217-404dup
NR_134502.2:n.564-10_564-3dup