Canonical Allele Identifier: CA379376114

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394254-G-A
• MyVariant Identifiers: chr11:g.6415484G>A (hg19) ; chr11:g.6394254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394254G>A , CM000673.2:g.6394254G>A	GRCh38
NC_000011.9:g.6415484G>A , CM000673.1:g.6415484G>A	GRCh37
NC_000011.8:g.6372060G>A	NCBI36
NG_011780.1:g.8830G>A
NG_029615.1:g.30161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1543G>A MANE Select	ENSP00000340409.4:p.Asp515Asn
ENST00000342245.8:c.1543G>A	ENSP00000340409.4:p.Asp515Asn
ENST00000526280.1:c.600G>A
ENST00000527275.5:c.1540G>A	ENSP00000435350.1:p.Asp514Asn
ENST00000531303.5:c.*394G>A	ENSP00000432625.1:n.*394G>A
ENST00000531336.1:n.531G>A
ENST00000533123.5:c.*270G>A	ENSP00000435950.1:n.*270G>A
ENST00000534405.5:c.*374G>A	ENSP00000434353.1:n.*374G>A
NM_000543.4:c.1543G>A	NP_000534.3:p.Asp515Asn
NM_001007593.2:c.1540G>A	NP_001007594.2:p.Asp514Asn
XM_005253075.3:c.*36G>A	XP_005253132.1:n.*36G>A
XM_011520303.1:c.1411G>A	XP_011518605.1:p.Asp471Asn
XM_011520304.1:c.*36G>A	XP_011518606.1:n.*36G>A
NM_001318087.1:c.*36G>A	NP_001305016.1:n.*36G>A
NM_001318088.1:c.622G>A	NP_001305017.1:p.Asp208Asn
NM_001365135.1:c.1411G>A	NP_001352064.1:p.Asp471Asn
NR_027400.2:n.1556G>A
NR_134502.1:n.1095G>A
XM_011520304.2:c.*36G>A	XP_011518606.1:n.*36G>A
XR_001747940.2:n.1728G>A
XR_002957158.1:n.1910G>A
NM_000543.5:c.1543G>A MANE Select	NP_000534.3:p.Asp515Asn
NM_001007593.3:c.1540G>A	NP_001007594.2:p.Asp514Asn
NM_001318087.2:c.*36G>A	NP_001305016.1:n.*36G>A
NM_001318088.2:c.622G>A	NP_001305017.1:p.Asp208Asn
NM_001365135.2:c.1411G>A	NP_001352064.1:p.Asp471Asn
NR_027400.3:n.1496G>A
NR_134502.2:n.1035G>A