Canonical Allele Identifier: CA379376527

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415557A>T (hg19) ; chr11:g.6394327A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394327A>T , CM000673.2:g.6394327A>T	GRCh38
NC_000011.9:g.6415557A>T , CM000673.1:g.6415557A>T	GRCh37
NC_000011.8:g.6372133A>T	NCBI36
NG_011780.1:g.8903A>T
NG_029615.1:g.30088T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1616A>T MANE Select	ENSP00000340409.4:p.Tyr539Phe
ENST00000342245.8:c.1616A>T	ENSP00000340409.4:p.Tyr539Phe
ENST00000526280.1:c.673A>T
ENST00000527275.5:c.1613A>T	ENSP00000435350.1:p.Tyr538Phe
ENST00000531303.5:c.*467A>T	ENSP00000432625.1:n.*467A>T
ENST00000531336.1:n.604A>T
ENST00000533123.5:c.*343A>T	ENSP00000435950.1:n.*343A>T
ENST00000534405.5:c.*447A>T	ENSP00000434353.1:n.*447A>T
NM_000543.4:c.1616A>T	NP_000534.3:p.Tyr539Phe
NM_001007593.2:c.1613A>T	NP_001007594.2:p.Tyr538Phe
XM_005253075.3:c.*109A>T	XP_005253132.1:n.*109A>T
XM_011520303.1:c.1484A>T	XP_011518605.1:p.Tyr495Phe
XM_011520304.1:c.*109A>T	XP_011518606.1:n.*109A>T
NM_001318087.1:c.*109A>T	NP_001305016.1:n.*109A>T
NM_001318088.1:c.695A>T	NP_001305017.1:p.Tyr232Phe
NM_001365135.1:c.1484A>T	NP_001352064.1:p.Tyr495Phe
NR_027400.2:n.1629A>T
NR_134502.1:n.1168A>T
XM_011520304.2:c.*109A>T	XP_011518606.1:n.*109A>T
XR_001747940.2:n.1801A>T
XR_002957158.1:n.1983A>T
NM_000543.5:c.1616A>T MANE Select	NP_000534.3:p.Tyr539Phe
NM_001007593.3:c.1613A>T	NP_001007594.2:p.Tyr538Phe
NM_001318087.2:c.*109A>T	NP_001305016.1:n.*109A>T
NM_001318088.2:c.695A>T	NP_001305017.1:p.Tyr232Phe
NM_001365135.2:c.1484A>T	NP_001352064.1:p.Tyr495Phe
NR_027400.3:n.1569A>T
NR_134502.2:n.1108A>T