Canonical Allele Identifier: CA597264377

Gene: SMPD1

Linked Data

• dbSNP Id: rs1198239250
• gnomAD v2: 11-6415883-T-C
• gnomAD v3: 11-6394653-T-C
• gnomAD v4: 11-6394653-T-C
• MyVariant Identifiers: chr11:g.6415883T>C (hg19) ; chr11:g.6394653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394653T>C , CM000673.2:g.6394653T>C	GRCh38
NC_000011.9:g.6415883T>C , CM000673.1:g.6415883T>C	GRCh37
NC_000011.8:g.6372459T>C	NCBI36
NG_011780.1:g.9229T>C
NG_029615.1:g.29762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*46T>C MANE Select	ENSP00000340409.4:n.*46T>C
ENST00000342245.8:c.*46T>C	ENSP00000340409.4:n.*46T>C
ENST00000526280.1:c.999T>C
ENST00000527275.5:c.*46T>C	ENSP00000435350.1:n.*46T>C
ENST00000531303.5:c.*793T>C	ENSP00000432625.1:n.*793T>C
ENST00000533123.5:c.*669T>C	ENSP00000435950.1:n.*669T>C
ENST00000534405.5:c.*773T>C	ENSP00000434353.1:n.*773T>C
NM_000543.4:c.*46T>C	NP_000534.3:n.*46T>C
NM_001007593.2:c.*46T>C	NP_001007594.2:n.*46T>C
XM_011520303.1:c.*46T>C	XP_011518605.1:n.*46T>C
NM_001318087.1:c.*435T>C	NP_001305016.1:n.*435T>C
NM_001318088.1:c.*46T>C	NP_001305017.1:n.*46T>C
NM_001365135.1:c.*46T>C	NP_001352064.1:n.*46T>C
NR_027400.2:n.1955T>C
NR_134502.1:n.1494T>C
XR_001747940.2:n.2127T>C
XR_002957158.1:n.2309T>C
NM_000543.5:c.*46T>C MANE Select	NP_000534.3:n.*46T>C
NM_001007593.3:c.*46T>C	NP_001007594.2:n.*46T>C
NM_001318087.2:c.*435T>C	NP_001305016.1:n.*435T>C
NM_001318088.2:c.*46T>C	NP_001305017.1:n.*46T>C
NM_001365135.2:c.*46T>C	NP_001352064.1:n.*46T>C
NR_027400.3:n.1895T>C
NR_134502.2:n.1434T>C