Canonical Allele Identifier: CA379374166

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393617-G-A
• MyVariant Identifiers: chr11:g.6414847G>A (hg19) ; chr11:g.6393617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393617G>A , CM000673.2:g.6393617G>A	GRCh38
NC_000011.9:g.6414847G>A , CM000673.1:g.6414847G>A	GRCh37
NC_000011.8:g.6371423G>A	NCBI36
NG_011780.1:g.8193G>A
NG_029615.1:g.30798C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1264G>A MANE Select	ENSP00000340409.4:p.Val422Met
ENST00000342245.8:c.1264G>A	ENSP00000340409.4:p.Val422Met
ENST00000526280.1:c.321G>A
ENST00000527275.5:c.1261G>A	ENSP00000435350.1:p.Val421Met
ENST00000531303.5:c.*95G>A	ENSP00000432625.1:n.*95G>A
ENST00000531336.1:n.96G>A
ENST00000532367.1:n.100G>A
ENST00000533123.5:c.1092G>A	ENSP00000435950.1:p.Arg364=
ENST00000534405.5:c.*95G>A	ENSP00000434353.1:n.*95G>A
NM_000543.4:c.1264G>A	NP_000534.3:p.Val422Met
NM_001007593.2:c.1261G>A	NP_001007594.2:p.Val421Met
XM_005253075.3:c.1264G>A	XP_005253132.1:p.Val422Met
XM_011520303.1:c.1132G>A	XP_011518605.1:p.Val378Met
XM_011520304.1:c.1132G>A	XP_011518606.1:p.Val378Met
XR_930886.1:n.1602G>A
NM_001318087.1:c.1264G>A	NP_001305016.1:p.Val422Met
NM_001318088.1:c.343G>A	NP_001305017.1:p.Val115Met
NM_001365135.1:c.1132G>A	NP_001352064.1:p.Val378Met
NR_027400.2:n.1277G>A
NR_134502.1:n.796G>A
XM_011520304.2:c.1132G>A	XP_011518606.1:p.Val378Met
XR_001747940.2:n.1429G>A
XR_002957158.1:n.1429G>A
NM_000543.5:c.1264G>A MANE Select	NP_000534.3:p.Val422Met
NM_001007593.3:c.1261G>A	NP_001007594.2:p.Val421Met
NM_001318087.2:c.1264G>A	NP_001305016.1:p.Val422Met
NM_001318088.2:c.343G>A	NP_001305017.1:p.Val115Met
NM_001365135.2:c.1132G>A	NP_001352064.1:p.Val378Met
NR_027400.3:n.1217G>A
NR_134502.2:n.736G>A