Canonical Allele Identifier: CA472909919

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393679-C-T
• MyVariant Identifiers: chr11:g.6414909C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393679C>T , CM000673.2:g.6393679C>T	GRCh38
NC_000011.9:g.6414909C>T , CM000673.1:g.6414909C>T	GRCh37
NC_000011.8:g.6371485C>T	NCBI36
NG_011780.1:g.8255C>T
NG_029615.1:g.30736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1326C>T MANE Select	ENSP00000340409.4:p.Tyr442=
ENST00000342245.8:c.1326C>T	ENSP00000340409.4:p.Tyr442=
ENST00000526280.1:c.383C>T
ENST00000527275.5:c.1323C>T	ENSP00000435350.1:p.Tyr441=
ENST00000531303.5:c.*157C>T	ENSP00000432625.1:n.*157C>T
ENST00000531336.1:n.158C>T
ENST00000532367.1:n.162C>T
ENST00000533123.5:c.*53C>T	ENSP00000435950.1:n.*53C>T
ENST00000534405.5:c.*157C>T	ENSP00000434353.1:n.*157C>T
NM_000543.4:c.1326C>T	NP_000534.3:p.Tyr442=
NM_001007593.2:c.1323C>T	NP_001007594.2:p.Tyr441=
XM_005253075.3:c.1326C>T	XP_005253132.1:p.Tyr442=
XM_011520303.1:c.1194C>T	XP_011518605.1:p.Tyr398=
XM_011520304.1:c.1194C>T	XP_011518606.1:p.Tyr398=
XR_930886.1:n.1664C>T
NM_001318087.1:c.1326C>T	NP_001305016.1:p.Tyr442=
NM_001318088.1:c.405C>T	NP_001305017.1:p.Tyr135=
NM_001365135.1:c.1194C>T	NP_001352064.1:p.Tyr398=
NR_027400.2:n.1339C>T
NR_134502.1:n.858C>T
XM_011520304.2:c.1194C>T	XP_011518606.1:p.Tyr398=
XR_001747940.2:n.1491C>T
XR_002957158.1:n.1491C>T
NM_000543.5:c.1326C>T MANE Select	NP_000534.3:p.Tyr442=
NM_001007593.3:c.1323C>T	NP_001007594.2:p.Tyr441=
NM_001318087.2:c.1326C>T	NP_001305016.1:p.Tyr442=
NM_001318088.2:c.405C>T	NP_001305017.1:p.Tyr135=
NM_001365135.2:c.1194C>T	NP_001352064.1:p.Tyr398=
NR_027400.3:n.1279C>T
NR_134502.2:n.798C>T