Canonical Allele Identifier: CA379376807

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415641A>T (hg19) ; chr11:g.6394411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394411A>T , CM000673.2:g.6394411A>T	GRCh38
NC_000011.9:g.6415641A>T , CM000673.1:g.6415641A>T	GRCh37
NC_000011.8:g.6372217A>T	NCBI36
NG_011780.1:g.8987A>T
NG_029615.1:g.30004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1700A>T MANE Select	ENSP00000340409.4:p.Gln567Leu
ENST00000342245.8:c.1700A>T	ENSP00000340409.4:p.Gln567Leu
ENST00000526280.1:c.757A>T
ENST00000527275.5:c.1697A>T	ENSP00000435350.1:p.Gln566Leu
ENST00000531303.5:c.*551A>T	ENSP00000432625.1:n.*551A>T
ENST00000533123.5:c.*427A>T	ENSP00000435950.1:n.*427A>T
ENST00000534405.5:c.*531A>T	ENSP00000434353.1:n.*531A>T
NM_000543.4:c.1700A>T	NP_000534.3:p.Gln567Leu
NM_001007593.2:c.1697A>T	NP_001007594.2:p.Gln566Leu
XM_005253075.3:c.*193A>T	XP_005253132.1:n.*193A>T
XM_011520303.1:c.1568A>T	XP_011518605.1:p.Gln523Leu
XM_011520304.1:c.*193A>T	XP_011518606.1:n.*193A>T
NM_001318087.1:c.*193A>T	NP_001305016.1:n.*193A>T
NM_001318088.1:c.779A>T	NP_001305017.1:p.Gln260Leu
NM_001365135.1:c.1568A>T	NP_001352064.1:p.Gln523Leu
NR_027400.2:n.1713A>T
NR_134502.1:n.1252A>T
XM_011520304.2:c.*193A>T	XP_011518606.1:n.*193A>T
XR_001747940.2:n.1885A>T
XR_002957158.1:n.2067A>T
NM_000543.5:c.1700A>T MANE Select	NP_000534.3:p.Gln567Leu
NM_001007593.3:c.1697A>T	NP_001007594.2:p.Gln566Leu
NM_001318087.2:c.*193A>T	NP_001305016.1:n.*193A>T
NM_001318088.2:c.779A>T	NP_001305017.1:p.Gln260Leu
NM_001365135.2:c.1568A>T	NP_001352064.1:p.Gln523Leu
NR_027400.3:n.1653A>T
NR_134502.2:n.1192A>T