Canonical Allele Identifier: CA379375818

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415443A>T (hg19) ; chr11:g.6394213A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394213A>T , CM000673.2:g.6394213A>T	GRCh38
NC_000011.9:g.6415443A>T , CM000673.1:g.6415443A>T	GRCh37
NC_000011.8:g.6372019A>T	NCBI36
NG_011780.1:g.8789A>T
NG_029615.1:g.30202T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1502A>T MANE Select	ENSP00000340409.4:p.Gln501Leu
ENST00000342245.8:c.1502A>T	ENSP00000340409.4:p.Gln501Leu
ENST00000526280.1:c.559A>T
ENST00000527275.5:c.1499A>T	ENSP00000435350.1:p.Gln500Leu
ENST00000531303.5:c.*353A>T	ENSP00000432625.1:n.*353A>T
ENST00000531336.1:n.490A>T
ENST00000533123.5:c.*229A>T	ENSP00000435950.1:n.*229A>T
ENST00000534405.5:c.*333A>T	ENSP00000434353.1:n.*333A>T
NM_000543.4:c.1502A>T	NP_000534.3:p.Gln501Leu
NM_001007593.2:c.1499A>T	NP_001007594.2:p.Gln500Leu
XM_005253075.3:c.1522A>T	XP_005253132.1:p.Lys508Ter
XM_011520303.1:c.1370A>T	XP_011518605.1:p.Gln457Leu
XM_011520304.1:c.1390A>T	XP_011518606.1:p.Lys464Ter
NM_001318087.1:c.1522A>T	NP_001305016.1:p.Lys508Ter
NM_001318088.1:c.581A>T	NP_001305017.1:p.Gln194Leu
NM_001365135.1:c.1370A>T	NP_001352064.1:p.Gln457Leu
NR_027400.2:n.1515A>T
NR_134502.1:n.1054A>T
XM_011520304.2:c.1390A>T	XP_011518606.1:p.Lys464Ter
XR_001747940.2:n.1687A>T
XR_002957158.1:n.1869A>T
NM_000543.5:c.1502A>T MANE Select	NP_000534.3:p.Gln501Leu
NM_001007593.3:c.1499A>T	NP_001007594.2:p.Gln500Leu
NM_001318087.2:c.1522A>T	NP_001305016.1:p.Lys508Ter
NM_001318088.2:c.581A>T	NP_001305017.1:p.Gln194Leu
NM_001365135.2:c.1370A>T	NP_001352064.1:p.Gln457Leu
NR_027400.3:n.1455A>T
NR_134502.2:n.994A>T