Canonical Allele Identifier: CA347287

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 203425
• ClinVar RCV Id: RCV000192220 ; RCV001004576 ; RCV001852412 ; RCV001194004 ; RCV003488441
• dbSNP Id: rs797044798
• gnomAD v2: 11-6412887-G-C
• gnomAD v3: 11-6391657-G-C
• gnomAD v4: 11-6391657-G-C
• MyVariant Identifiers: chr11:g.6412887G>C (hg19) ; chr11:g.6391657G>C (hg38)
• PubMed: PMID:20301544

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391657G>C , CM000673.2:g.6391657G>C	GRCh38
NC_000011.9:g.6412887G>C , CM000673.1:g.6412887G>C	GRCh37
NC_000011.8:g.6369463G>C	NCBI36
NG_011780.1:g.6233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.592G>C MANE Select	ENSP00000340409.4:p.Ala198Pro
ENST00000342245.8:c.592G>C	ENSP00000340409.4:p.Ala198Pro
ENST00000527275.5:c.589G>C	ENSP00000435350.1:p.Ala197Pro
ENST00000530395.1:c.-95-133G>C	ENSP00000431479.1:n.-95-133G>C
ENST00000531303.5:c.438+154G>C	ENSP00000432625.1:n.438+154G>C
ENST00000533123.5:c.592G>C	ENSP00000435950.1:p.Ala198Pro
ENST00000533196.1:n.375-349G>C
ENST00000534405.5:c.592G>C	ENSP00000434353.1:p.Ala198Pro
NM_000543.4:c.592G>C	NP_000534.3:p.Ala198Pro
NM_001007593.2:c.589G>C	NP_001007594.2:p.Ala197Pro
XM_005253075.3:c.592G>C	XP_005253132.1:p.Ala198Pro
XM_011520303.1:c.592G>C	XP_011518605.1:p.Ala198Pro
XM_011520304.1:c.592G>C	XP_011518606.1:p.Ala198Pro
XR_930886.1:n.890G>C
NM_001318087.1:c.592G>C	NP_001305016.1:p.Ala198Pro
NM_001318088.1:c.-370G>C	NP_001305017.1:n.-370G>C
NM_001365135.1:c.592G>C	NP_001352064.1:p.Ala198Pro
NR_027400.2:n.777G>C
NR_134502.1:n.623+154G>C
XM_011520304.2:c.592G>C	XP_011518606.1:p.Ala198Pro
XR_001747940.2:n.717G>C
XR_002957158.1:n.717G>C
NM_000543.5:c.592G>C MANE Select	NP_000534.3:p.Ala198Pro
NM_001007593.3:c.589G>C	NP_001007594.2:p.Ala197Pro
NM_001318087.2:c.592G>C	NP_001305016.1:p.Ala198Pro
NM_001318088.2:c.-370G>C	NP_001305017.1:n.-370G>C
NM_001365135.2:c.592G>C	NP_001352064.1:p.Ala198Pro
NR_027400.3:n.717G>C
NR_134502.2:n.563+154G>C