Canonical Allele Identifier: CA653943566

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847845573
• gnomAD v4: 11-6390465-C-T
• COSMIC: COSN5916522

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390465C>T , CM000673.2:g.6390465C>T	GRCh38
NC_000011.9:g.6411695C>T , CM000673.1:g.6411695C>T	GRCh37
NC_000011.8:g.6368271C>T	NCBI36
NG_011780.1:g.5041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-134C>T	ENSP00000340409.4:n.-134C>T
ENST00000530395.1:c.-270C>T	ENSP00000431479.1:n.-270C>T
ENST00000533196.1:n.26C>T
NM_000543.4:c.-134C>T	NP_000534.3:n.-134C>T
NM_001007593.2:c.-134C>T	NP_001007594.2:n.-134C>T
XM_005253075.3:c.-134C>T	XP_005253132.1:n.-134C>T
XM_011520303.1:c.-134C>T	XP_011518605.1:n.-134C>T
XM_011520304.1:c.-134C>T	XP_011518606.1:n.-134C>T
XR_930886.1:n.165C>T
NM_001318087.1:c.-134C>T	NP_001305016.1:n.-134C>T
NM_001318088.1:c.-1095C>T	NP_001305017.1:n.-1095C>T
NR_027400.2:n.52C>T
NR_134502.1:n.52C>T