Canonical Allele Identifier: CA379374228

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 432163
• ClinVar RCV Id: RCV000498689 ; RCV000665319 ; RCV001851371 ; RCV004555866
• dbSNP Id: rs1554935136
• gnomAD v4: 11-6393629-G-A
• MyVariant Identifiers: chr11:g.6414859G>A (hg19) ; chr11:g.6393629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393629G>A , CM000673.2:g.6393629G>A	GRCh38
NC_000011.9:g.6414859G>A , CM000673.1:g.6414859G>A	GRCh37
NC_000011.8:g.6371435G>A	NCBI36
NG_011780.1:g.8205G>A
NG_029615.1:g.30786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1276G>A MANE Select	ENSP00000340409.4:p.Gly426Ser
ENST00000342245.8:c.1276G>A	ENSP00000340409.4:p.Gly426Ser
ENST00000526280.1:c.333G>A
ENST00000527275.5:c.1273G>A	ENSP00000435350.1:p.Gly425Ser
ENST00000531303.5:c.*107G>A	ENSP00000432625.1:n.*107G>A
ENST00000531336.1:n.108G>A
ENST00000532367.1:n.112G>A
ENST00000533123.5:c.*3G>A	ENSP00000435950.1:n.*3G>A
ENST00000534405.5:c.*107G>A	ENSP00000434353.1:n.*107G>A
NM_000543.4:c.1276G>A	NP_000534.3:p.Gly426Ser
NM_001007593.2:c.1273G>A	NP_001007594.2:p.Gly425Ser
XM_005253075.3:c.1276G>A	XP_005253132.1:p.Gly426Ser
XM_011520303.1:c.1144G>A	XP_011518605.1:p.Gly382Ser
XM_011520304.1:c.1144G>A	XP_011518606.1:p.Gly382Ser
XR_930886.1:n.1614G>A
NM_001318087.1:c.1276G>A	NP_001305016.1:p.Gly426Ser
NM_001318088.1:c.355G>A	NP_001305017.1:p.Gly119Ser
NM_001365135.1:c.1144G>A	NP_001352064.1:p.Gly382Ser
NR_027400.2:n.1289G>A
NR_134502.1:n.808G>A
XM_011520304.2:c.1144G>A	XP_011518606.1:p.Gly382Ser
XR_001747940.2:n.1441G>A
XR_002957158.1:n.1441G>A
NM_000543.5:c.1276G>A MANE Select	NP_000534.3:p.Gly426Ser
NM_001007593.3:c.1273G>A	NP_001007594.2:p.Gly425Ser
NM_001318087.2:c.1276G>A	NP_001305016.1:p.Gly426Ser
NM_001318088.2:c.355G>A	NP_001305017.1:p.Gly119Ser
NM_001365135.2:c.1144G>A	NP_001352064.1:p.Gly382Ser
NR_027400.3:n.1229G>A
NR_134502.2:n.748G>A