Canonical Allele Identifier: CA379369918

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391612-G-T
• MyVariant Identifiers: chr11:g.6412842G>T (hg19) ; chr11:g.6391612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391612G>T , CM000673.2:g.6391612G>T	GRCh38
NC_000011.9:g.6412842G>T , CM000673.1:g.6412842G>T	GRCh37
NC_000011.8:g.6369418G>T	NCBI36
NG_011780.1:g.6188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.547G>T MANE Select	ENSP00000340409.4:p.Val183Leu
ENST00000342245.8:c.547G>T	ENSP00000340409.4:p.Val183Leu
ENST00000527275.5:c.544G>T	ENSP00000435350.1:p.Val182Leu
ENST00000530395.1:c.-95-178G>T	ENSP00000431479.1:n.-95-178G>T
ENST00000531303.5:c.438+109G>T	ENSP00000432625.1:n.438+109G>T
ENST00000533123.5:c.547G>T	ENSP00000435950.1:p.Val183Leu
ENST00000533196.1:n.375-394G>T
ENST00000534405.5:c.547G>T	ENSP00000434353.1:p.Val183Leu
NM_000543.4:c.547G>T	NP_000534.3:p.Val183Leu
NM_001007593.2:c.544G>T	NP_001007594.2:p.Val182Leu
XM_005253075.3:c.547G>T	XP_005253132.1:p.Val183Leu
XM_011520303.1:c.547G>T	XP_011518605.1:p.Val183Leu
XM_011520304.1:c.547G>T	XP_011518606.1:p.Val183Leu
XR_930886.1:n.845G>T
NM_001318087.1:c.547G>T	NP_001305016.1:p.Val183Leu
NM_001318088.1:c.-415G>T	NP_001305017.1:n.-415G>T
NM_001365135.1:c.547G>T	NP_001352064.1:p.Val183Leu
NR_027400.2:n.732G>T
NR_134502.1:n.623+109G>T
XM_011520304.2:c.547G>T	XP_011518606.1:p.Val183Leu
XR_001747940.2:n.672G>T
XR_002957158.1:n.672G>T
NM_000543.5:c.547G>T MANE Select	NP_000534.3:p.Val183Leu
NM_001007593.3:c.544G>T	NP_001007594.2:p.Val182Leu
NM_001318087.2:c.547G>T	NP_001305016.1:p.Val183Leu
NM_001318088.2:c.-415G>T	NP_001305017.1:n.-415G>T
NM_001365135.2:c.547G>T	NP_001352064.1:p.Val183Leu
NR_027400.3:n.672G>T
NR_134502.2:n.563+109G>T