Canonical Allele Identifier: CA379371168

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413155G>T (hg19) ; chr11:g.6391925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391925G>T , CM000673.2:g.6391925G>T	GRCh38
NC_000011.9:g.6413155G>T , CM000673.1:g.6413155G>T	GRCh37
NC_000011.8:g.6369731G>T	NCBI36
NG_011780.1:g.6501G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.860G>T MANE Select	ENSP00000340409.4:p.Trp287Leu
ENST00000342245.8:c.860G>T	ENSP00000340409.4:p.Trp287Leu
ENST00000526280.1:c.49G>T
ENST00000527275.5:c.857G>T	ENSP00000435350.1:p.Trp286Leu
ENST00000530395.1:c.41G>T	ENSP00000431479.1:p.Trp14Leu
ENST00000531303.5:c.438+422G>T	ENSP00000432625.1:n.438+422G>T
ENST00000533123.5:c.860G>T	ENSP00000435950.1:p.Trp287Leu
ENST00000533196.1:n.375-81G>T
ENST00000534405.5:c.860G>T	ENSP00000434353.1:p.Trp287Leu
NM_000543.4:c.860G>T	NP_000534.3:p.Trp287Leu
NM_001007593.2:c.857G>T	NP_001007594.2:p.Trp286Leu
XM_005253075.3:c.860G>T	XP_005253132.1:p.Trp287Leu
XM_011520303.1:c.860G>T	XP_011518605.1:p.Trp287Leu
XM_011520304.1:c.860G>T	XP_011518606.1:p.Trp287Leu
XR_930886.1:n.1158G>T
NM_001318087.1:c.860G>T	NP_001305016.1:p.Trp287Leu
NM_001318088.1:c.-102G>T	NP_001305017.1:n.-102G>T
NM_001365135.1:c.860G>T	NP_001352064.1:p.Trp287Leu
NR_027400.2:n.1045G>T
NR_134502.1:n.623+422G>T
XM_011520304.2:c.860G>T	XP_011518606.1:p.Trp287Leu
XR_001747940.2:n.985G>T
XR_002957158.1:n.985G>T
NM_000543.5:c.860G>T MANE Select	NP_000534.3:p.Trp287Leu
NM_001007593.3:c.857G>T	NP_001007594.2:p.Trp286Leu
NM_001318087.2:c.860G>T	NP_001305016.1:p.Trp287Leu
NM_001318088.2:c.-102G>T	NP_001305017.1:n.-102G>T
NM_001365135.2:c.860G>T	NP_001352064.1:p.Trp287Leu
NR_027400.3:n.985G>T
NR_134502.2:n.563+422G>T