Canonical Allele Identifier: CA10635207

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 305212
• ClinVar RCV Id: RCV000332845 ; RCV001569929
• dbSNP Id: rs12278115
• gnomAD v2: 11-6416131-G-C
• gnomAD v3: 11-6394901-G-C
• gnomAD v4: 11-6394901-G-C
• MyVariant Identifiers: chr11:g.6416131G>C (hg19) ; chr11:g.6394901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394901G>C , CM000673.2:g.6394901G>C	GRCh38
NC_000011.9:g.6416131G>C , CM000673.1:g.6416131G>C	GRCh37
NC_000011.8:g.6372707G>C	NCBI36
NG_011780.1:g.9477G>C
NG_029615.1:g.29514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*294G>C MANE Select	ENSP00000340409.4:n.*294G>C
ENST00000342245.8:c.*294G>C	ENSP00000340409.4:n.*294G>C
ENST00000526280.1:c.1247G>C
ENST00000533123.5:c.*917G>C	ENSP00000435950.1:n.*917G>C
ENST00000534405.5:c.*1021G>C	ENSP00000434353.1:n.*1021G>C
NM_000543.4:c.*294G>C	NP_000534.3:n.*294G>C
NM_001007593.2:c.*294G>C	NP_001007594.2:n.*294G>C
XM_011520303.1:c.*294G>C	XP_011518605.1:n.*294G>C
NM_001318087.1:c.*683G>C	NP_001305016.1:n.*683G>C
NM_001318088.1:c.*294G>C	NP_001305017.1:n.*294G>C
NM_001365135.1:c.*294G>C	NP_001352064.1:n.*294G>C
NR_027400.2:n.2203G>C
NR_134502.1:n.1742G>C
XR_001747940.2:n.2375G>C
XR_002957158.1:n.2557G>C
NM_000543.5:c.*294G>C MANE Select	NP_000534.3:n.*294G>C
NM_001007593.3:c.*294G>C	NP_001007594.2:n.*294G>C
NM_001318087.2:c.*683G>C	NP_001305016.1:n.*683G>C
NM_001318088.2:c.*294G>C	NP_001305017.1:n.*294G>C
NM_001365135.2:c.*294G>C	NP_001352064.1:n.*294G>C
NR_027400.3:n.2143G>C
NR_134502.2:n.1682G>C