Canonical Allele Identifier: CA4931008

Gene: SMPD5 OPLAH

Linked Data

• ClinVar Variation Id: 1599755
• ClinVar RCV Id: RCV002116133
• dbSNP Id: rs782568024
• ExAC: 8:145106383 C / CG
• gnomAD v2: 8-145106383-C-CG
• gnomAD v3: 8-144051482-C-CG
• gnomAD v4: 8-144051482-C-CG
• MyVariant Identifiers: chr8:g.145106384_145106385insG (hg19) ; chr8:g.145106383_145106384insG (hg19) ; chr8:g.144051483_144051484insG (hg38) ; chr8:g.144051482_144051483insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144051491dup , CM000670.2:g.144051491dup	GRCh38
NC_000008.10:g.145106392dup , CM000670.1:g.145106392dup	GRCh37
NC_000008.9:g.145178380dup	NCBI36
NG_032671.1:g.14199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686861.1:n.714dup (SMPD5)
ENST00000687871.1:n.962dup (SMPD5)
ENST00000689734.1:n.962dup (SMPD5)
ENST00000691496.1:n.799dup (SMPD5)
ENST00000693651.1:n.963dup (SMPD5)
ENST00000528912.1:n.1359dup (SMPD5)
ENST00000618853.5:c.3721-11dup (OPLAH) MANE Select	ENSP00000480476.1:n.3721-11dup
ENST00000618853.4:c.3721-11dup (OPLAH)	ENSP00000480476.1:n.3721-11dup
NM_017570.4:c.3721-11dup (OPLAH)	NP_060040.1:n.3721-11dup
XM_011516960.1:c.4009-11dup (OPLAH)	XP_011515262.1:n.4009-11dup
NM_017570.5:c.3721-11dup (OPLAH) MANE Select	NP_060040.1:n.3721-11dup