Canonical Allele Identifier: CA472736711

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393307-T-C
• MyVariant Identifiers: chr11:g.6414537T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393307T>C , CM000673.2:g.6393307T>C	GRCh38
NC_000011.9:g.6414537T>C , CM000673.1:g.6414537T>C	GRCh37
NC_000011.8:g.6371113T>C	NCBI36
NG_011780.1:g.7883T>C
NG_029615.1:g.31108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1183T>C MANE Select	ENSP00000340409.4:p.Leu395=
ENST00000342245.8:c.1183T>C	ENSP00000340409.4:p.Leu395=
ENST00000526280.1:c.321-310T>C
ENST00000527275.5:c.1180T>C	ENSP00000435350.1:p.Leu394=
ENST00000531303.5:c.*14T>C	ENSP00000432625.1:n.*14T>C
ENST00000531336.1:n.15T>C
ENST00000533123.5:c.1092-310T>C	ENSP00000435950.1:n.1092-310T>C
ENST00000534405.5:c.*14T>C	ENSP00000434353.1:n.*14T>C
NM_000543.4:c.1183T>C	NP_000534.3:p.Leu395=
NM_001007593.2:c.1180T>C	NP_001007594.2:p.Leu394=
XM_005253075.3:c.1183T>C	XP_005253132.1:p.Leu395=
XM_011520303.1:c.1132-310T>C	XP_011518605.1:n.1132-310T>C
XM_011520304.1:c.1132-310T>C	XP_011518606.1:n.1132-310T>C
XR_930886.1:n.1521T>C
NM_001318087.1:c.1183T>C	NP_001305016.1:p.Leu395=
NM_001318088.1:c.262T>C	NP_001305017.1:p.Leu88=
NM_001365135.1:c.1132-310T>C	NP_001352064.1:n.1132-310T>C
NR_027400.2:n.1277-310T>C
NR_134502.1:n.715T>C
XM_011520304.2:c.1132-310T>C	XP_011518606.1:n.1132-310T>C
XR_001747940.2:n.1348T>C
XR_002957158.1:n.1348T>C
NM_000543.5:c.1183T>C MANE Select	NP_000534.3:p.Leu395=
NM_001007593.3:c.1180T>C	NP_001007594.2:p.Leu394=
NM_001318087.2:c.1183T>C	NP_001305016.1:p.Leu395=
NM_001318088.2:c.262T>C	NP_001305017.1:p.Leu88=
NM_001365135.2:c.1132-310T>C	NP_001352064.1:n.1132-310T>C
NR_027400.3:n.1217-310T>C
NR_134502.2:n.655T>C