Canonical Allele Identifier: CA472910112

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394202-C-T
• MyVariant Identifiers: chr11:g.6415432C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394202C>T , CM000673.2:g.6394202C>T	GRCh38
NC_000011.9:g.6415432C>T , CM000673.1:g.6415432C>T	GRCh37
NC_000011.8:g.6372008C>T	NCBI36
NG_011780.1:g.8778C>T
NG_029615.1:g.30213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1491C>T MANE Select	ENSP00000340409.4:p.Tyr497=
ENST00000342245.8:c.1491C>T	ENSP00000340409.4:p.Tyr497=
ENST00000526280.1:c.548C>T
ENST00000527275.5:c.1488C>T	ENSP00000435350.1:p.Tyr496=
ENST00000531303.5:c.*342C>T	ENSP00000432625.1:n.*342C>T
ENST00000531336.1:n.479C>T
ENST00000533123.5:c.*218C>T	ENSP00000435950.1:n.*218C>T
ENST00000534405.5:c.*322C>T	ENSP00000434353.1:n.*322C>T
NM_000543.4:c.1491C>T	NP_000534.3:p.Tyr497=
NM_001007593.2:c.1488C>T	NP_001007594.2:p.Tyr496=
XM_005253075.3:c.1511C>T	XP_005253132.1:p.Thr504Ile
XM_011520303.1:c.1359C>T	XP_011518605.1:p.Tyr453=
XM_011520304.1:c.1379C>T	XP_011518606.1:p.Thr460Ile
NM_001318087.1:c.1511C>T	NP_001305016.1:p.Thr504Ile
NM_001318088.1:c.570C>T	NP_001305017.1:p.Tyr190=
NM_001365135.1:c.1359C>T	NP_001352064.1:p.Tyr453=
NR_027400.2:n.1504C>T
NR_134502.1:n.1043C>T
XM_011520304.2:c.1379C>T	XP_011518606.1:p.Thr460Ile
XR_001747940.2:n.1676C>T
XR_002957158.1:n.1858C>T
NM_000543.5:c.1491C>T MANE Select	NP_000534.3:p.Tyr497=
NM_001007593.3:c.1488C>T	NP_001007594.2:p.Tyr496=
NM_001318087.2:c.1511C>T	NP_001305016.1:p.Thr504Ile
NM_001318088.2:c.570C>T	NP_001305017.1:p.Tyr190=
NM_001365135.2:c.1359C>T	NP_001352064.1:p.Tyr453=
NR_027400.3:n.1444C>T
NR_134502.2:n.983C>T