Canonical Allele Identifier: CA379372791

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414460A>C (hg19) ; chr11:g.6393230A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393230A>C , CM000673.2:g.6393230A>C	GRCh38
NC_000011.9:g.6414460A>C , CM000673.1:g.6414460A>C	GRCh37
NC_000011.8:g.6371036A>C	NCBI36
NG_011780.1:g.7806A>C
NG_029615.1:g.31185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1106A>C MANE Select	ENSP00000340409.4:p.Tyr369Ser
ENST00000342245.8:c.1106A>C	ENSP00000340409.4:p.Tyr369Ser
ENST00000526280.1:c.321-387A>C
ENST00000527275.5:c.1103A>C	ENSP00000435350.1:p.Tyr368Ser
ENST00000531303.5:c.453A>C	ENSP00000432625.1:p.Leu151=
ENST00000533123.5:c.1092-387A>C	ENSP00000435950.1:n.1092-387A>C
ENST00000534405.5:c.1146A>C	ENSP00000434353.1:p.Leu382=
NM_000543.4:c.1106A>C	NP_000534.3:p.Tyr369Ser
NM_001007593.2:c.1103A>C	NP_001007594.2:p.Tyr368Ser
XM_005253075.3:c.1106A>C	XP_005253132.1:p.Tyr369Ser
XM_011520303.1:c.1132-387A>C	XP_011518605.1:n.1132-387A>C
XM_011520304.1:c.1132-387A>C	XP_011518606.1:n.1132-387A>C
XR_930886.1:n.1444A>C
NM_001318087.1:c.1106A>C	NP_001305016.1:p.Tyr369Ser
NM_001318088.1:c.185A>C	NP_001305017.1:p.Tyr62Ser
NM_001365135.1:c.1132-387A>C	NP_001352064.1:n.1132-387A>C
NR_027400.2:n.1277-387A>C
NR_134502.1:n.638A>C
XM_011520304.2:c.1132-387A>C	XP_011518606.1:n.1132-387A>C
XR_001747940.2:n.1271A>C
XR_002957158.1:n.1271A>C
NM_000543.5:c.1106A>C MANE Select	NP_000534.3:p.Tyr369Ser
NM_001007593.3:c.1103A>C	NP_001007594.2:p.Tyr368Ser
NM_001318087.2:c.1106A>C	NP_001305016.1:p.Tyr369Ser
NM_001318088.2:c.185A>C	NP_001305017.1:p.Tyr62Ser
NM_001365135.2:c.1132-387A>C	NP_001352064.1:n.1132-387A>C
NR_027400.3:n.1217-387A>C
NR_134502.2:n.578A>C