Canonical Allele Identifier: CA379371813

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392113-G-A
• COSMIC: COSM4127480 ; COSM4127481
• MyVariant Identifiers: chr11:g.6413343G>A (hg19) ; chr11:g.6392113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392113G>A , CM000673.2:g.6392113G>A	GRCh38
NC_000011.9:g.6413343G>A , CM000673.1:g.6413343G>A	GRCh37
NC_000011.8:g.6369919G>A	NCBI36
NG_011780.1:g.6689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1048G>A MANE Select	ENSP00000340409.4:p.Ala350Thr
ENST00000342245.8:c.1048G>A	ENSP00000340409.4:p.Ala350Thr
ENST00000526280.1:c.237G>A
ENST00000527275.5:c.1045G>A	ENSP00000435350.1:p.Ala349Thr
ENST00000531303.5:c.438+610G>A	ENSP00000432625.1:n.438+610G>A
ENST00000533123.5:c.1048G>A	ENSP00000435950.1:p.Ala350Thr
ENST00000534405.5:c.1048G>A	ENSP00000434353.1:p.Ala350Thr
NM_000543.4:c.1048G>A	NP_000534.3:p.Ala350Thr
NM_001007593.2:c.1045G>A	NP_001007594.2:p.Ala349Thr
XM_005253075.3:c.1048G>A	XP_005253132.1:p.Ala350Thr
XM_011520303.1:c.1048G>A	XP_011518605.1:p.Ala350Thr
XM_011520304.1:c.1048G>A	XP_011518606.1:p.Ala350Thr
XR_930886.1:n.1346G>A
NM_001318087.1:c.1048G>A	NP_001305016.1:p.Ala350Thr
NM_001318088.1:c.87G>A	NP_001305017.1:p.Arg29=
NM_001365135.1:c.1048G>A	NP_001352064.1:p.Ala350Thr
NR_027400.2:n.1233G>A
NR_134502.1:n.623+610G>A
XM_011520304.2:c.1048G>A	XP_011518606.1:p.Ala350Thr
XR_001747940.2:n.1173G>A
XR_002957158.1:n.1173G>A
NM_000543.5:c.1048G>A MANE Select	NP_000534.3:p.Ala350Thr
NM_001007593.3:c.1045G>A	NP_001007594.2:p.Ala349Thr
NM_001318087.2:c.1048G>A	NP_001305016.1:p.Ala350Thr
NM_001318088.2:c.87G>A	NP_001305017.1:p.Arg29=
NM_001365135.2:c.1048G>A	NP_001352064.1:p.Ala350Thr
NR_027400.3:n.1173G>A
NR_134502.2:n.563+610G>A