Canonical Allele Identifier: CA2612224320

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394818-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394818T>C , CM000673.2:g.6394818T>C	GRCh38
NC_000011.9:g.6416048T>C , CM000673.1:g.6416048T>C	GRCh37
NC_000011.8:g.6372624T>C	NCBI36
NG_011780.1:g.9394T>C
NG_029615.1:g.29597A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*211T>C MANE Select	ENSP00000340409.4:n.*211T>C
ENST00000342245.8:c.*211T>C	ENSP00000340409.4:n.*211T>C
ENST00000526280.1:c.1164T>C
ENST00000533123.5:c.*834T>C	ENSP00000435950.1:n.*834T>C
ENST00000534405.5:c.*938T>C	ENSP00000434353.1:n.*938T>C
NM_000543.4:c.*211T>C	NP_000534.3:n.*211T>C
NM_001007593.2:c.*211T>C	NP_001007594.2:n.*211T>C
XM_011520303.1:c.*211T>C	XP_011518605.1:n.*211T>C
NM_001318087.1:c.*600T>C	NP_001305016.1:n.*600T>C
NM_001318088.1:c.*211T>C	NP_001305017.1:n.*211T>C
NM_001365135.1:c.*211T>C	NP_001352064.1:n.*211T>C
NR_027400.2:n.2120T>C
NR_134502.1:n.1659T>C
XR_001747940.2:n.2292T>C
XR_002957158.1:n.2474T>C
NM_000543.5:c.*211T>C MANE Select	NP_000534.3:n.*211T>C
NM_001007593.3:c.*211T>C	NP_001007594.2:n.*211T>C
NM_001318087.2:c.*600T>C	NP_001305016.1:n.*600T>C
NM_001318088.2:c.*211T>C	NP_001305017.1:n.*211T>C
NM_001365135.2:c.*211T>C	NP_001352064.1:n.*211T>C
NR_027400.3:n.2060T>C
NR_134502.2:n.1599T>C