Canonical Allele Identifier: CA472909678

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413090G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391860G>A , CM000673.2:g.6391860G>A	GRCh38
NC_000011.9:g.6413090G>A , CM000673.1:g.6413090G>A	GRCh37
NC_000011.8:g.6369666G>A	NCBI36
NG_011780.1:g.6436G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.795G>A MANE Select	ENSP00000340409.4:p.Gly265=
ENST00000342245.8:c.795G>A	ENSP00000340409.4:p.Gly265=
ENST00000527275.5:c.792G>A	ENSP00000435350.1:p.Gly264=
ENST00000530395.1:c.-25G>A	ENSP00000431479.1:n.-25G>A
ENST00000531303.5:c.438+357G>A	ENSP00000432625.1:n.438+357G>A
ENST00000533123.5:c.795G>A	ENSP00000435950.1:p.Gly265=
ENST00000533196.1:n.375-146G>A
ENST00000534405.5:c.795G>A	ENSP00000434353.1:p.Gly265=
NM_000543.4:c.795G>A	NP_000534.3:p.Gly265=
NM_001007593.2:c.792G>A	NP_001007594.2:p.Gly264=
XM_005253075.3:c.795G>A	XP_005253132.1:p.Gly265=
XM_011520303.1:c.795G>A	XP_011518605.1:p.Gly265=
XM_011520304.1:c.795G>A	XP_011518606.1:p.Gly265=
XR_930886.1:n.1093G>A
NM_001318087.1:c.795G>A	NP_001305016.1:p.Gly265=
NM_001318088.1:c.-167G>A	NP_001305017.1:n.-167G>A
NM_001365135.1:c.795G>A	NP_001352064.1:p.Gly265=
NR_027400.2:n.980G>A
NR_134502.1:n.623+357G>A
XM_011520304.2:c.795G>A	XP_011518606.1:p.Gly265=
XR_001747940.2:n.920G>A
XR_002957158.1:n.920G>A
NM_000543.5:c.795G>A MANE Select	NP_000534.3:p.Gly265=
NM_001007593.3:c.792G>A	NP_001007594.2:p.Gly264=
NM_001318087.2:c.795G>A	NP_001305016.1:p.Gly265=
NM_001318088.2:c.-167G>A	NP_001305017.1:n.-167G>A
NM_001365135.2:c.795G>A	NP_001352064.1:p.Gly265=
NR_027400.3:n.920G>A
NR_134502.2:n.563+357G>A