Canonical Allele Identifier: CA379373849

Gene: SMPD1

Linked Data

• dbSNP Id: rs1462335192
• gnomAD v2: 11-6414593-G-C
• MyVariant Identifiers: chr11:g.6414593G>C (hg19) ; chr11:g.6393363G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393363G>C , CM000673.2:g.6393363G>C	GRCh38
NC_000011.9:g.6414593G>C , CM000673.1:g.6414593G>C	GRCh37
NC_000011.8:g.6371169G>C	NCBI36
NG_011780.1:g.7939G>C
NG_029615.1:g.31052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1239G>C MANE Select	ENSP00000340409.4:p.Gln413His
ENST00000342245.8:c.1239G>C	ENSP00000340409.4:p.Gln413His
ENST00000526280.1:c.321-254G>C
ENST00000527275.5:c.1236G>C	ENSP00000435350.1:p.Gln412His
ENST00000531303.5:c.*70G>C	ENSP00000432625.1:n.*70G>C
ENST00000531336.1:n.71G>C
ENST00000533123.5:c.1092-254G>C	ENSP00000435950.1:n.1092-254G>C
ENST00000534405.5:c.*70G>C	ENSP00000434353.1:n.*70G>C
NM_000543.4:c.1239G>C	NP_000534.3:p.Gln413His
NM_001007593.2:c.1236G>C	NP_001007594.2:p.Gln412His
XM_005253075.3:c.1239G>C	XP_005253132.1:p.Gln413His
XM_011520303.1:c.1132-254G>C	XP_011518605.1:n.1132-254G>C
XM_011520304.1:c.1132-254G>C	XP_011518606.1:n.1132-254G>C
XR_930886.1:n.1577G>C
NM_001318087.1:c.1239G>C	NP_001305016.1:p.Gln413His
NM_001318088.1:c.318G>C	NP_001305017.1:p.Gln106His
NM_001365135.1:c.1132-254G>C	NP_001352064.1:n.1132-254G>C
NR_027400.2:n.1277-254G>C
NR_134502.1:n.771G>C
XM_011520304.2:c.1132-254G>C	XP_011518606.1:n.1132-254G>C
XR_001747940.2:n.1404G>C
XR_002957158.1:n.1404G>C
NM_000543.5:c.1239G>C MANE Select	NP_000534.3:p.Gln413His
NM_001007593.3:c.1236G>C	NP_001007594.2:p.Gln412His
NM_001318087.2:c.1239G>C	NP_001305016.1:p.Gln413His
NM_001318088.2:c.318G>C	NP_001305017.1:p.Gln106His
NM_001365135.2:c.1132-254G>C	NP_001352064.1:n.1132-254G>C
NR_027400.3:n.1217-254G>C
NR_134502.2:n.711G>C