Canonical Allele Identifier: CA472910450

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415798A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394568A>T , CM000673.2:g.6394568A>T	GRCh38
NC_000011.9:g.6415798A>T , CM000673.1:g.6415798A>T	GRCh37
NC_000011.8:g.6372374A>T	NCBI36
NG_011780.1:g.9144A>T
NG_029615.1:g.29847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1857A>T MANE Select	ENSP00000340409.4:p.Pro619=
ENST00000342245.8:c.1857A>T	ENSP00000340409.4:p.Pro619=
ENST00000526280.1:c.914A>T
ENST00000527275.5:c.1854A>T	ENSP00000435350.1:p.Pro618=
ENST00000531303.5:c.*708A>T	ENSP00000432625.1:n.*708A>T
ENST00000533123.5:c.*584A>T	ENSP00000435950.1:n.*584A>T
ENST00000534405.5:c.*688A>T	ENSP00000434353.1:n.*688A>T
NM_000543.4:c.1857A>T	NP_000534.3:p.Pro619=
NM_001007593.2:c.1854A>T	NP_001007594.2:p.Pro618=
XM_005253075.3:c.*350A>T	XP_005253132.1:n.*350A>T
XM_011520303.1:c.1725A>T	XP_011518605.1:p.Pro575=
NM_001318087.1:c.*350A>T	NP_001305016.1:n.*350A>T
NM_001318088.1:c.936A>T	NP_001305017.1:p.Pro312=
NM_001365135.1:c.1725A>T	NP_001352064.1:p.Pro575=
NR_027400.2:n.1870A>T
NR_134502.1:n.1409A>T
XR_001747940.2:n.2042A>T
XR_002957158.1:n.2224A>T
NM_000543.5:c.1857A>T MANE Select	NP_000534.3:p.Pro619=
NM_001007593.3:c.1854A>T	NP_001007594.2:p.Pro618=
NM_001318087.2:c.*350A>T	NP_001305016.1:n.*350A>T
NM_001318088.2:c.936A>T	NP_001305017.1:p.Pro312=
NM_001365135.2:c.1725A>T	NP_001352064.1:p.Pro575=
NR_027400.3:n.1810A>T
NR_134502.2:n.1349A>T