Canonical Allele Identifier: CA379375554

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2024216
• ClinVar RCV Id: RCV002863151
• gnomAD v4: 11-6394029-G-C
• MyVariant Identifiers: chr11:g.6415259G>C (hg19) ; chr11:g.6394029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394029G>C , CM000673.2:g.6394029G>C	GRCh38
NC_000011.9:g.6415259G>C , CM000673.1:g.6415259G>C	GRCh37
NC_000011.8:g.6371835G>C	NCBI36
NG_011780.1:g.8605G>C
NG_029615.1:g.30386C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1474G>C MANE Select	ENSP00000340409.4:p.Gly492Arg
ENST00000342245.8:c.1474G>C	ENSP00000340409.4:p.Gly492Arg
ENST00000526280.1:c.531G>C
ENST00000527275.5:c.1471G>C	ENSP00000435350.1:p.Gly491Arg
ENST00000531303.5:c.*305G>C	ENSP00000432625.1:n.*305G>C
ENST00000531336.1:n.306G>C
ENST00000532367.1:n.310G>C
ENST00000533123.5:c.*201G>C	ENSP00000435950.1:n.*201G>C
ENST00000534405.5:c.*305G>C	ENSP00000434353.1:n.*305G>C
NM_000543.4:c.1474G>C	NP_000534.3:p.Gly492Arg
NM_001007593.2:c.1471G>C	NP_001007594.2:p.Gly491Arg
XM_005253075.3:c.1474G>C	XP_005253132.1:p.Gly492Arg
XM_011520303.1:c.1342G>C	XP_011518605.1:p.Gly448Arg
XM_011520304.1:c.1342G>C	XP_011518606.1:p.Gly448Arg
NM_001318087.1:c.1474G>C	NP_001305016.1:p.Gly492Arg
NM_001318088.1:c.553G>C	NP_001305017.1:p.Gly185Arg
NM_001365135.1:c.1342G>C	NP_001352064.1:p.Gly448Arg
NR_027400.2:n.1487G>C
NR_134502.1:n.1006G>C
XM_011520304.2:c.1342G>C	XP_011518606.1:p.Gly448Arg
XR_001747940.2:n.1639G>C
XR_002957158.1:n.1841G>C
NM_000543.5:c.1474G>C MANE Select	NP_000534.3:p.Gly492Arg
NM_001007593.3:c.1471G>C	NP_001007594.2:p.Gly491Arg
NM_001318087.2:c.1474G>C	NP_001305016.1:p.Gly492Arg
NM_001318088.2:c.553G>C	NP_001305017.1:p.Gly185Arg
NM_001365135.2:c.1342G>C	NP_001352064.1:p.Gly448Arg
NR_027400.3:n.1427G>C
NR_134502.2:n.946G>C