Canonical Allele Identifier: CA379375883

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415454A>T (hg19) ; chr11:g.6394224A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394224A>T , CM000673.2:g.6394224A>T	GRCh38
NC_000011.9:g.6415454A>T , CM000673.1:g.6415454A>T	GRCh37
NC_000011.8:g.6372030A>T	NCBI36
NG_011780.1:g.8800A>T
NG_029615.1:g.30191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1513A>T MANE Select	ENSP00000340409.4:p.Asn505Tyr
ENST00000342245.8:c.1513A>T	ENSP00000340409.4:p.Asn505Tyr
ENST00000526280.1:c.570A>T
ENST00000527275.5:c.1510A>T	ENSP00000435350.1:p.Asn504Tyr
ENST00000531303.5:c.*364A>T	ENSP00000432625.1:n.*364A>T
ENST00000531336.1:n.501A>T
ENST00000533123.5:c.*240A>T	ENSP00000435950.1:n.*240A>T
ENST00000534405.5:c.*344A>T	ENSP00000434353.1:n.*344A>T
NM_000543.4:c.1513A>T	NP_000534.3:p.Asn505Tyr
NM_001007593.2:c.1510A>T	NP_001007594.2:p.Asn504Tyr
XM_005253075.3:c.*6A>T	XP_005253132.1:n.*6A>T
XM_011520303.1:c.1381A>T	XP_011518605.1:p.Asn461Tyr
XM_011520304.1:c.*6A>T	XP_011518606.1:n.*6A>T
NM_001318087.1:c.*6A>T	NP_001305016.1:n.*6A>T
NM_001318088.1:c.592A>T	NP_001305017.1:p.Asn198Tyr
NM_001365135.1:c.1381A>T	NP_001352064.1:p.Asn461Tyr
NR_027400.2:n.1526A>T
NR_134502.1:n.1065A>T
XM_011520304.2:c.*6A>T	XP_011518606.1:n.*6A>T
XR_001747940.2:n.1698A>T
XR_002957158.1:n.1880A>T
NM_000543.5:c.1513A>T MANE Select	NP_000534.3:p.Asn505Tyr
NM_001007593.3:c.1510A>T	NP_001007594.2:p.Asn504Tyr
NM_001318087.2:c.*6A>T	NP_001305016.1:n.*6A>T
NM_001318088.2:c.592A>T	NP_001305017.1:p.Asn198Tyr
NM_001365135.2:c.1381A>T	NP_001352064.1:p.Asn461Tyr
NR_027400.3:n.1466A>T
NR_134502.2:n.1005A>T