Canonical Allele Identifier: CA2612220863

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390455-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390455T>C , CM000673.2:g.6390455T>C	GRCh38
NC_000011.9:g.6411685T>C , CM000673.1:g.6411685T>C	GRCh37
NC_000011.8:g.6368261T>C	NCBI36
NG_011780.1:g.5031T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-144T>C	ENSP00000340409.4:n.-144T>C
ENST00000530395.1:c.-280T>C	ENSP00000431479.1:n.-280T>C
ENST00000533196.1:n.16T>C
NM_000543.4:c.-144T>C	NP_000534.3:n.-144T>C
NM_001007593.2:c.-144T>C	NP_001007594.2:n.-144T>C
XM_005253075.3:c.-144T>C	XP_005253132.1:n.-144T>C
XM_011520303.1:c.-144T>C	XP_011518605.1:n.-144T>C
XM_011520304.1:c.-144T>C	XP_011518606.1:n.-144T>C
XR_930886.1:n.155T>C
NM_001318087.1:c.-144T>C	NP_001305016.1:n.-144T>C
NM_001318088.1:c.-1105T>C	NP_001305017.1:n.-1105T>C
NR_027400.2:n.42T>C
NR_134502.1:n.42T>C