Canonical Allele Identifier: CA472909786

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413211A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391981A>C , CM000673.2:g.6391981A>C	GRCh38
NC_000011.9:g.6413211A>C , CM000673.1:g.6413211A>C	GRCh37
NC_000011.8:g.6369787A>C	NCBI36
NG_011780.1:g.6557A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.916A>C MANE Select	ENSP00000340409.4:p.Arg306=
ENST00000342245.8:c.916A>C	ENSP00000340409.4:p.Arg306=
ENST00000526280.1:c.105A>C
ENST00000527275.5:c.913A>C	ENSP00000435350.1:p.Arg305=
ENST00000530395.1:c.97A>C	ENSP00000431479.1:p.Arg33=
ENST00000531303.5:c.438+478A>C	ENSP00000432625.1:n.438+478A>C
ENST00000533123.5:c.916A>C	ENSP00000435950.1:p.Arg306=
ENST00000533196.1:n.375-25A>C
ENST00000534405.5:c.916A>C	ENSP00000434353.1:p.Arg306=
NM_000543.4:c.916A>C	NP_000534.3:p.Arg306=
NM_001007593.2:c.913A>C	NP_001007594.2:p.Arg305=
XM_005253075.3:c.916A>C	XP_005253132.1:p.Arg306=
XM_011520303.1:c.916A>C	XP_011518605.1:p.Arg306=
XM_011520304.1:c.916A>C	XP_011518606.1:p.Arg306=
XR_930886.1:n.1214A>C
NM_001318087.1:c.916A>C	NP_001305016.1:p.Arg306=
NM_001318088.1:c.-46A>C	NP_001305017.1:n.-46A>C
NM_001365135.1:c.916A>C	NP_001352064.1:p.Arg306=
NR_027400.2:n.1101A>C
NR_134502.1:n.623+478A>C
XM_011520304.2:c.916A>C	XP_011518606.1:p.Arg306=
XR_001747940.2:n.1041A>C
XR_002957158.1:n.1041A>C
NM_000543.5:c.916A>C MANE Select	NP_000534.3:p.Arg306=
NM_001007593.3:c.913A>C	NP_001007594.2:p.Arg305=
NM_001318087.2:c.916A>C	NP_001305016.1:p.Arg306=
NM_001318088.2:c.-46A>C	NP_001305017.1:n.-46A>C
NM_001365135.2:c.916A>C	NP_001352064.1:p.Arg306=
NR_027400.3:n.1041A>C
NR_134502.2:n.563+478A>C