Canonical Allele Identifier: CA379375835

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415446T>A (hg19) ; chr11:g.6394216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394216T>A , CM000673.2:g.6394216T>A	GRCh38
NC_000011.9:g.6415446T>A , CM000673.1:g.6415446T>A	GRCh37
NC_000011.8:g.6372022T>A	NCBI36
NG_011780.1:g.8792T>A
NG_029615.1:g.30199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1505T>A MANE Select	ENSP00000340409.4:p.Ile502Lys
ENST00000342245.8:c.1505T>A	ENSP00000340409.4:p.Ile502Lys
ENST00000526280.1:c.562T>A
ENST00000527275.5:c.1502T>A	ENSP00000435350.1:p.Ile501Lys
ENST00000531303.5:c.*356T>A	ENSP00000432625.1:n.*356T>A
ENST00000531336.1:n.493T>A
ENST00000533123.5:c.*232T>A	ENSP00000435950.1:n.*232T>A
ENST00000534405.5:c.*336T>A	ENSP00000434353.1:n.*336T>A
NM_000543.4:c.1505T>A	NP_000534.3:p.Ile502Lys
NM_001007593.2:c.1502T>A	NP_001007594.2:p.Ile501Lys
XM_005253075.3:c.1525T>A	XP_005253132.1:p.Ter509Lys
XM_011520303.1:c.1373T>A	XP_011518605.1:p.Ile458Lys
XM_011520304.1:c.1393T>A	XP_011518606.1:p.Ter465Lys
NM_001318087.1:c.1525T>A	NP_001305016.1:p.Ter509Lys
NM_001318088.1:c.584T>A	NP_001305017.1:p.Ile195Lys
NM_001365135.1:c.1373T>A	NP_001352064.1:p.Ile458Lys
NR_027400.2:n.1518T>A
NR_134502.1:n.1057T>A
XM_011520304.2:c.1393T>A	XP_011518606.1:p.Ter465Lys
XR_001747940.2:n.1690T>A
XR_002957158.1:n.1872T>A
NM_000543.5:c.1505T>A MANE Select	NP_000534.3:p.Ile502Lys
NM_001007593.3:c.1502T>A	NP_001007594.2:p.Ile501Lys
NM_001318087.2:c.1525T>A	NP_001305016.1:p.Ter509Lys
NM_001318088.2:c.584T>A	NP_001305017.1:p.Ile195Lys
NM_001365135.2:c.1373T>A	NP_001352064.1:p.Ile458Lys
NR_027400.3:n.1458T>A
NR_134502.2:n.997T>A