Canonical Allele Identifier: CA472736687

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414515T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393285T>C , CM000673.2:g.6393285T>C	GRCh38
NC_000011.9:g.6414515T>C , CM000673.1:g.6414515T>C	GRCh37
NC_000011.8:g.6371091T>C	NCBI36
NG_011780.1:g.7861T>C
NG_029615.1:g.31130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1161T>C MANE Select	ENSP00000340409.4:p.Cys387=
ENST00000342245.8:c.1161T>C	ENSP00000340409.4:p.Cys387=
ENST00000526280.1:c.321-332T>C
ENST00000527275.5:c.1158T>C	ENSP00000435350.1:p.Cys386=
ENST00000531303.5:c.508T>C	ENSP00000432625.1:p.Phe170Leu
ENST00000533123.5:c.1092-332T>C	ENSP00000435950.1:n.1092-332T>C
ENST00000534405.5:c.1201T>C	ENSP00000434353.1:p.Phe401Leu
NM_000543.4:c.1161T>C	NP_000534.3:p.Cys387=
NM_001007593.2:c.1158T>C	NP_001007594.2:p.Cys386=
XM_005253075.3:c.1161T>C	XP_005253132.1:p.Cys387=
XM_011520303.1:c.1132-332T>C	XP_011518605.1:n.1132-332T>C
XM_011520304.1:c.1132-332T>C	XP_011518606.1:n.1132-332T>C
XR_930886.1:n.1499T>C
NM_001318087.1:c.1161T>C	NP_001305016.1:p.Cys387=
NM_001318088.1:c.240T>C	NP_001305017.1:p.Cys80=
NM_001365135.1:c.1132-332T>C	NP_001352064.1:n.1132-332T>C
NR_027400.2:n.1277-332T>C
NR_134502.1:n.693T>C
XM_011520304.2:c.1132-332T>C	XP_011518606.1:n.1132-332T>C
XR_001747940.2:n.1326T>C
XR_002957158.1:n.1326T>C
NM_000543.5:c.1161T>C MANE Select	NP_000534.3:p.Cys387=
NM_001007593.3:c.1158T>C	NP_001007594.2:p.Cys386=
NM_001318087.2:c.1161T>C	NP_001305016.1:p.Cys387=
NM_001318088.2:c.240T>C	NP_001305017.1:p.Cys80=
NM_001365135.2:c.1132-332T>C	NP_001352064.1:n.1132-332T>C
NR_027400.3:n.1217-332T>C
NR_134502.2:n.633T>C