Canonical Allele Identifier: CA5852431

Gene: SMPD1

Linked Data

• dbSNP Id: rs780468153
• ExAC: 11:6411778 A / T
• gnomAD v2: 11-6411778-A-T
• gnomAD v3: 11-6390548-A-T
• gnomAD v4: 11-6390548-A-T
• MyVariant Identifiers: chr11:g.6411778A>T (hg19) ; chr11:g.6390548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390548A>T , CM000673.2:g.6390548A>T	GRCh38
NC_000011.9:g.6411778A>T , CM000673.1:g.6411778A>T	GRCh37
NC_000011.8:g.6368354A>T	NCBI36
NG_011780.1:g.5124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-51A>T MANE Select	ENSP00000340409.4:n.-51A>T
ENST00000342245.8:c.-51A>T	ENSP00000340409.4:n.-51A>T
ENST00000527275.5:c.-51A>T	ENSP00000435350.1:n.-51A>T
ENST00000530395.1:c.-187A>T	ENSP00000431479.1:n.-187A>T
ENST00000533123.5:c.-51A>T	ENSP00000435950.1:n.-51A>T
ENST00000533196.1:n.109A>T
ENST00000534405.5:c.-51A>T	ENSP00000434353.1:n.-51A>T
NM_000543.4:c.-51A>T	NP_000534.3:n.-51A>T
NM_001007593.2:c.-51A>T	NP_001007594.2:n.-51A>T
XM_005253075.3:c.-51A>T	XP_005253132.1:n.-51A>T
XM_011520303.1:c.-51A>T	XP_011518605.1:n.-51A>T
XM_011520304.1:c.-51A>T	XP_011518606.1:n.-51A>T
XR_930886.1:n.248A>T
NM_001318087.1:c.-51A>T	NP_001305016.1:n.-51A>T
NM_001318088.1:c.-1012A>T	NP_001305017.1:n.-1012A>T
NM_001365135.1:c.-51A>T	NP_001352064.1:n.-51A>T
NR_027400.2:n.135A>T
NR_134502.1:n.135A>T
XM_011520304.2:c.-51A>T	XP_011518606.1:n.-51A>T
XR_001747940.2:n.75A>T
XR_002957158.1:n.75A>T
NM_000543.5:c.-51A>T MANE Select	NP_000534.3:n.-51A>T
NM_001007593.3:c.-51A>T	NP_001007594.2:n.-51A>T
NM_001318087.2:c.-51A>T	NP_001305016.1:n.-51A>T
NM_001318088.2:c.-1012A>T	NP_001305017.1:n.-1012A>T
NM_001365135.2:c.-51A>T	NP_001352064.1:n.-51A>T
NR_027400.3:n.75A>T
NR_134502.2:n.75A>T