Canonical Allele Identifier: CA2740093596

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 3049324
• ClinVar RCV Id: RCV003959174

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390718_6390741dup , CM000673.2:g.6390718_6390741dup	GRCh38
NC_000011.9:g.6411948_6411971dup , CM000673.1:g.6411948_6411971dup	GRCh37
NC_000011.8:g.6368524_6368547dup	NCBI36
NG_011780.1:g.5294_5317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.120_143dup MANE Select	ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
ENST00000342245.8:c.120_143dup	ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
ENST00000527275.5:c.120_143dup	ENSP00000435350.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
ENST00000530395.1:c.-96+79_-96+102dup	ENSP00000431479.1:n.-96+79_-96+102dup
ENST00000531303.5:c.120_143dup	ENSP00000432625.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
ENST00000533123.5:c.120_143dup	ENSP00000435950.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
ENST00000533196.1:n.279_302dup
ENST00000534405.5:c.120_143dup	ENSP00000434353.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NM_000543.4:c.120_143dup	NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NM_001007593.2:c.120_143dup	NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
XM_005253075.3:c.120_143dup	XP_005253132.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
XM_011520303.1:c.120_143dup	XP_011518605.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
XM_011520304.1:c.120_143dup	XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
XR_930886.1:n.418_441dup
NM_001318087.1:c.120_143dup	NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NM_001318088.1:c.-842_-819dup	NP_001305017.1:n.-842_-819dup
NM_001365135.1:c.120_143dup	NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NR_027400.2:n.305_328dup
NR_134502.1:n.305_328dup
XM_011520304.2:c.120_143dup	XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
XR_001747940.2:n.245_268dup
XR_002957158.1:n.245_268dup
NM_000543.5:c.120_143dup MANE Select	NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NM_001007593.3:c.120_143dup	NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NM_001318087.2:c.120_143dup	NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NM_001318088.2:c.-842_-819dup	NP_001305017.1:n.-842_-819dup
NM_001365135.2:c.120_143dup	NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAla
NR_027400.3:n.245_268dup
NR_134502.2:n.245_268dup