Canonical Allele Identifier: CA597264406

Gene: SMPD1

Linked Data

• dbSNP Id: rs1221968975
• gnomAD v2: 11-6415953-C-T
• gnomAD v3: 11-6394723-C-T
• gnomAD v4: 11-6394723-C-T
• MyVariant Identifiers: chr11:g.6415953C>T (hg19) ; chr11:g.6394723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394723C>T , CM000673.2:g.6394723C>T	GRCh38
NC_000011.9:g.6415953C>T , CM000673.1:g.6415953C>T	GRCh37
NC_000011.8:g.6372529C>T	NCBI36
NG_011780.1:g.9299C>T
NG_029615.1:g.29692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*116C>T MANE Select	ENSP00000340409.4:n.*116C>T
ENST00000342245.8:c.*116C>T	ENSP00000340409.4:n.*116C>T
ENST00000526280.1:c.1069C>T
ENST00000527275.5:c.*116C>T	ENSP00000435350.1:n.*116C>T
ENST00000531303.5:c.*863C>T	ENSP00000432625.1:n.*863C>T
ENST00000533123.5:c.*739C>T	ENSP00000435950.1:n.*739C>T
ENST00000534405.5:c.*843C>T	ENSP00000434353.1:n.*843C>T
NM_000543.4:c.*116C>T	NP_000534.3:n.*116C>T
NM_001007593.2:c.*116C>T	NP_001007594.2:n.*116C>T
XM_011520303.1:c.*116C>T	XP_011518605.1:n.*116C>T
NM_001318087.1:c.*505C>T	NP_001305016.1:n.*505C>T
NM_001318088.1:c.*116C>T	NP_001305017.1:n.*116C>T
NM_001365135.1:c.*116C>T	NP_001352064.1:n.*116C>T
NR_027400.2:n.2025C>T
NR_134502.1:n.1564C>T
XR_001747940.2:n.2197C>T
XR_002957158.1:n.2379C>T
NM_000543.5:c.*116C>T MANE Select	NP_000534.3:n.*116C>T
NM_001007593.3:c.*116C>T	NP_001007594.2:n.*116C>T
NM_001318087.2:c.*505C>T	NP_001305016.1:n.*505C>T
NM_001318088.2:c.*116C>T	NP_001305017.1:n.*116C>T
NM_001365135.2:c.*116C>T	NP_001352064.1:n.*116C>T
NR_027400.3:n.1965C>T
NR_134502.2:n.1504C>T