Canonical Allele Identifier: CA379377019

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394464-C-G
• MyVariant Identifiers: chr11:g.6415694C>G (hg19) ; chr11:g.6394464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394464C>G , CM000673.2:g.6394464C>G	GRCh38
NC_000011.9:g.6415694C>G , CM000673.1:g.6415694C>G	GRCh37
NC_000011.8:g.6372270C>G	NCBI36
NG_011780.1:g.9040C>G
NG_029615.1:g.29951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1753C>G MANE Select	ENSP00000340409.4:p.Pro585Ala
ENST00000342245.8:c.1753C>G	ENSP00000340409.4:p.Pro585Ala
ENST00000526280.1:c.810C>G
ENST00000527275.5:c.1750C>G	ENSP00000435350.1:p.Pro584Ala
ENST00000531303.5:c.*604C>G	ENSP00000432625.1:n.*604C>G
ENST00000533123.5:c.*480C>G	ENSP00000435950.1:n.*480C>G
ENST00000534405.5:c.*584C>G	ENSP00000434353.1:n.*584C>G
NM_000543.4:c.1753C>G	NP_000534.3:p.Pro585Ala
NM_001007593.2:c.1750C>G	NP_001007594.2:p.Pro584Ala
XM_005253075.3:c.*246C>G	XP_005253132.1:n.*246C>G
XM_011520303.1:c.1621C>G	XP_011518605.1:p.Pro541Ala
XM_011520304.1:c.*246C>G	XP_011518606.1:n.*246C>G
NM_001318087.1:c.*246C>G	NP_001305016.1:n.*246C>G
NM_001318088.1:c.832C>G	NP_001305017.1:p.Pro278Ala
NM_001365135.1:c.1621C>G	NP_001352064.1:p.Pro541Ala
NR_027400.2:n.1766C>G
NR_134502.1:n.1305C>G
XM_011520304.2:c.*246C>G	XP_011518606.1:n.*246C>G
XR_001747940.2:n.1938C>G
XR_002957158.1:n.2120C>G
NM_000543.5:c.1753C>G MANE Select	NP_000534.3:p.Pro585Ala
NM_001007593.3:c.1750C>G	NP_001007594.2:p.Pro584Ala
NM_001318087.2:c.*246C>G	NP_001305016.1:n.*246C>G
NM_001318088.2:c.832C>G	NP_001305017.1:p.Pro278Ala
NM_001365135.2:c.1621C>G	NP_001352064.1:p.Pro541Ala
NR_027400.3:n.1706C>G
NR_134502.2:n.1245C>G