Canonical Allele Identifier: CA379377096

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394488-G-A
• MyVariant Identifiers: chr11:g.6415718G>A (hg19) ; chr11:g.6394488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394488G>A , CM000673.2:g.6394488G>A	GRCh38
NC_000011.9:g.6415718G>A , CM000673.1:g.6415718G>A	GRCh37
NC_000011.8:g.6372294G>A	NCBI36
NG_011780.1:g.9064G>A
NG_029615.1:g.29927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1777G>A MANE Select	ENSP00000340409.4:p.Ala593Thr
ENST00000342245.8:c.1777G>A	ENSP00000340409.4:p.Ala593Thr
ENST00000526280.1:c.834G>A
ENST00000527275.5:c.1774G>A	ENSP00000435350.1:p.Ala592Thr
ENST00000531303.5:c.*628G>A	ENSP00000432625.1:n.*628G>A
ENST00000533123.5:c.*504G>A	ENSP00000435950.1:n.*504G>A
ENST00000534405.5:c.*608G>A	ENSP00000434353.1:n.*608G>A
NM_000543.4:c.1777G>A	NP_000534.3:p.Ala593Thr
NM_001007593.2:c.1774G>A	NP_001007594.2:p.Ala592Thr
XM_005253075.3:c.*270G>A	XP_005253132.1:n.*270G>A
XM_011520303.1:c.1645G>A	XP_011518605.1:p.Ala549Thr
XM_011520304.1:c.*270G>A	XP_011518606.1:n.*270G>A
NM_001318087.1:c.*270G>A	NP_001305016.1:n.*270G>A
NM_001318088.1:c.856G>A	NP_001305017.1:p.Ala286Thr
NM_001365135.1:c.1645G>A	NP_001352064.1:p.Ala549Thr
NR_027400.2:n.1790G>A
NR_134502.1:n.1329G>A
XM_011520304.2:c.*270G>A	XP_011518606.1:n.*270G>A
XR_001747940.2:n.1962G>A
XR_002957158.1:n.2144G>A
NM_000543.5:c.1777G>A MANE Select	NP_000534.3:p.Ala593Thr
NM_001007593.3:c.1774G>A	NP_001007594.2:p.Ala592Thr
NM_001318087.2:c.*270G>A	NP_001305016.1:n.*270G>A
NM_001318088.2:c.856G>A	NP_001305017.1:p.Ala286Thr
NM_001365135.2:c.1645G>A	NP_001352064.1:p.Ala549Thr
NR_027400.3:n.1730G>A
NR_134502.2:n.1269G>A