Canonical Allele Identifier: CA472909957

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393935-T-G
• MyVariant Identifiers: chr11:g.6415165T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393935T>G , CM000673.2:g.6393935T>G	GRCh38
NC_000011.9:g.6415165T>G , CM000673.1:g.6415165T>G	GRCh37
NC_000011.8:g.6371741T>G	NCBI36
NG_011780.1:g.8511T>G
NG_029615.1:g.30480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1380T>G MANE Select	ENSP00000340409.4:p.Thr460=
ENST00000342245.8:c.1380T>G	ENSP00000340409.4:p.Thr460=
ENST00000526280.1:c.437T>G
ENST00000527275.5:c.1377T>G	ENSP00000435350.1:p.Thr459=
ENST00000531303.5:c.*211T>G	ENSP00000432625.1:n.*211T>G
ENST00000531336.1:n.212T>G
ENST00000532367.1:n.216T>G
ENST00000533123.5:c.*107T>G	ENSP00000435950.1:n.*107T>G
ENST00000534405.5:c.*211T>G	ENSP00000434353.1:n.*211T>G
NM_000543.4:c.1380T>G	NP_000534.3:p.Thr460=
NM_001007593.2:c.1377T>G	NP_001007594.2:p.Thr459=
XM_005253075.3:c.1380T>G	XP_005253132.1:p.Thr460=
XM_011520303.1:c.1248T>G	XP_011518605.1:p.Thr416=
XM_011520304.1:c.1248T>G	XP_011518606.1:p.Thr416=
XR_930886.1:n.1718T>G
NM_001318087.1:c.1380T>G	NP_001305016.1:p.Thr460=
NM_001318088.1:c.459T>G	NP_001305017.1:p.Thr153=
NM_001365135.1:c.1248T>G	NP_001352064.1:p.Thr416=
NR_027400.2:n.1393T>G
NR_134502.1:n.912T>G
XM_011520304.2:c.1248T>G	XP_011518606.1:p.Thr416=
XR_001747940.2:n.1545T>G
XR_002957158.1:n.1747T>G
NM_000543.5:c.1380T>G MANE Select	NP_000534.3:p.Thr460=
NM_001007593.3:c.1377T>G	NP_001007594.2:p.Thr459=
NM_001318087.2:c.1380T>G	NP_001305016.1:p.Thr460=
NM_001318088.2:c.459T>G	NP_001305017.1:p.Thr153=
NM_001365135.2:c.1248T>G	NP_001352064.1:p.Thr416=
NR_027400.3:n.1333T>G
NR_134502.2:n.852T>G