Canonical Allele Identifier: CA472910220

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415672T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394442T>C , CM000673.2:g.6394442T>C	GRCh38
NC_000011.9:g.6415672T>C , CM000673.1:g.6415672T>C	GRCh37
NC_000011.8:g.6372248T>C	NCBI36
NG_011780.1:g.9018T>C
NG_029615.1:g.29973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1731T>C MANE Select	ENSP00000340409.4:p.His577=
ENST00000342245.8:c.1731T>C	ENSP00000340409.4:p.His577=
ENST00000526280.1:c.788T>C
ENST00000527275.5:c.1728T>C	ENSP00000435350.1:p.His576=
ENST00000531303.5:c.*582T>C	ENSP00000432625.1:n.*582T>C
ENST00000533123.5:c.*458T>C	ENSP00000435950.1:n.*458T>C
ENST00000534405.5:c.*562T>C	ENSP00000434353.1:n.*562T>C
NM_000543.4:c.1731T>C	NP_000534.3:p.His577=
NM_001007593.2:c.1728T>C	NP_001007594.2:p.His576=
XM_005253075.3:c.*224T>C	XP_005253132.1:n.*224T>C
XM_011520303.1:c.1599T>C	XP_011518605.1:p.His533=
XM_011520304.1:c.*224T>C	XP_011518606.1:n.*224T>C
NM_001318087.1:c.*224T>C	NP_001305016.1:n.*224T>C
NM_001318088.1:c.810T>C	NP_001305017.1:p.His270=
NM_001365135.1:c.1599T>C	NP_001352064.1:p.His533=
NR_027400.2:n.1744T>C
NR_134502.1:n.1283T>C
XM_011520304.2:c.*224T>C	XP_011518606.1:n.*224T>C
XR_001747940.2:n.1916T>C
XR_002957158.1:n.2098T>C
NM_000543.5:c.1731T>C MANE Select	NP_000534.3:p.His577=
NM_001007593.3:c.1728T>C	NP_001007594.2:p.His576=
NM_001318087.2:c.*224T>C	NP_001305016.1:n.*224T>C
NM_001318088.2:c.810T>C	NP_001305017.1:p.His270=
NM_001365135.2:c.1599T>C	NP_001352064.1:p.His533=
NR_027400.3:n.1684T>C
NR_134502.2:n.1223T>C