Canonical Allele Identifier: CA934769794

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848118274
• gnomAD v3: 11-6394822-T-C
• gnomAD v4: 11-6394822-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394822T>C , CM000673.2:g.6394822T>C	GRCh38
NC_000011.9:g.6416052T>C , CM000673.1:g.6416052T>C	GRCh37
NC_000011.8:g.6372628T>C	NCBI36
NG_011780.1:g.9398T>C
NG_029615.1:g.29593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*215T>C MANE Select	ENSP00000340409.4:n.*215T>C
ENST00000342245.8:c.*215T>C	ENSP00000340409.4:n.*215T>C
ENST00000526280.1:c.1168T>C
ENST00000533123.5:c.*838T>C	ENSP00000435950.1:n.*838T>C
ENST00000534405.5:c.*942T>C	ENSP00000434353.1:n.*942T>C
NM_000543.4:c.*215T>C	NP_000534.3:n.*215T>C
NM_001007593.2:c.*215T>C	NP_001007594.2:n.*215T>C
XM_011520303.1:c.*215T>C	XP_011518605.1:n.*215T>C
NM_001318087.1:c.*604T>C	NP_001305016.1:n.*604T>C
NM_001318088.1:c.*215T>C	NP_001305017.1:n.*215T>C
NM_001365135.1:c.*215T>C	NP_001352064.1:n.*215T>C
NR_027400.2:n.2124T>C
NR_134502.1:n.1663T>C
XR_001747940.2:n.2296T>C
XR_002957158.1:n.2478T>C
NM_000543.5:c.*215T>C MANE Select	NP_000534.3:n.*215T>C
NM_001007593.3:c.*215T>C	NP_001007594.2:n.*215T>C
NM_001318087.2:c.*604T>C	NP_001305016.1:n.*604T>C
NM_001318088.2:c.*215T>C	NP_001305017.1:n.*215T>C
NM_001365135.2:c.*215T>C	NP_001352064.1:n.*215T>C
NR_027400.3:n.2064T>C
NR_134502.2:n.1603T>C