Canonical Allele Identifier: CA379372852

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414469C>G (hg19) ; chr11:g.6393239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393239C>G , CM000673.2:g.6393239C>G	GRCh38
NC_000011.9:g.6414469C>G , CM000673.1:g.6414469C>G	GRCh37
NC_000011.8:g.6371045C>G	NCBI36
NG_011780.1:g.7815C>G
NG_029615.1:g.31176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1115C>G MANE Select	ENSP00000340409.4:p.Ser372Cys
ENST00000342245.8:c.1115C>G	ENSP00000340409.4:p.Ser372Cys
ENST00000526280.1:c.321-378C>G
ENST00000527275.5:c.1112C>G	ENSP00000435350.1:p.Ser371Cys
ENST00000531303.5:c.462C>G	ENSP00000432625.1:p.Phe154Leu
ENST00000533123.5:c.1092-378C>G	ENSP00000435950.1:n.1092-378C>G
ENST00000534405.5:c.1155C>G	ENSP00000434353.1:p.Phe385Leu
NM_000543.4:c.1115C>G	NP_000534.3:p.Ser372Cys
NM_001007593.2:c.1112C>G	NP_001007594.2:p.Ser371Cys
XM_005253075.3:c.1115C>G	XP_005253132.1:p.Ser372Cys
XM_011520303.1:c.1132-378C>G	XP_011518605.1:n.1132-378C>G
XM_011520304.1:c.1132-378C>G	XP_011518606.1:n.1132-378C>G
XR_930886.1:n.1453C>G
NM_001318087.1:c.1115C>G	NP_001305016.1:p.Ser372Cys
NM_001318088.1:c.194C>G	NP_001305017.1:p.Ser65Cys
NM_001365135.1:c.1132-378C>G	NP_001352064.1:n.1132-378C>G
NR_027400.2:n.1277-378C>G
NR_134502.1:n.647C>G
XM_011520304.2:c.1132-378C>G	XP_011518606.1:n.1132-378C>G
XR_001747940.2:n.1280C>G
XR_002957158.1:n.1280C>G
NM_000543.5:c.1115C>G MANE Select	NP_000534.3:p.Ser372Cys
NM_001007593.3:c.1112C>G	NP_001007594.2:p.Ser371Cys
NM_001318087.2:c.1115C>G	NP_001305016.1:p.Ser372Cys
NM_001318088.2:c.194C>G	NP_001305017.1:p.Ser65Cys
NM_001365135.2:c.1132-378C>G	NP_001352064.1:n.1132-378C>G
NR_027400.3:n.1217-378C>G
NR_134502.2:n.587C>G