Canonical Allele Identifier: CA2612224400

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394877-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394877T>A , CM000673.2:g.6394877T>A	GRCh38
NC_000011.9:g.6416107T>A , CM000673.1:g.6416107T>A	GRCh37
NC_000011.8:g.6372683T>A	NCBI36
NG_011780.1:g.9453T>A
NG_029615.1:g.29538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*270T>A MANE Select	ENSP00000340409.4:n.*270T>A
ENST00000342245.8:c.*270T>A	ENSP00000340409.4:n.*270T>A
ENST00000526280.1:c.1223T>A
ENST00000533123.5:c.*893T>A	ENSP00000435950.1:n.*893T>A
ENST00000534405.5:c.*997T>A	ENSP00000434353.1:n.*997T>A
NM_000543.4:c.*270T>A	NP_000534.3:n.*270T>A
NM_001007593.2:c.*270T>A	NP_001007594.2:n.*270T>A
XM_011520303.1:c.*270T>A	XP_011518605.1:n.*270T>A
NM_001318087.1:c.*659T>A	NP_001305016.1:n.*659T>A
NM_001318088.1:c.*270T>A	NP_001305017.1:n.*270T>A
NM_001365135.1:c.*270T>A	NP_001352064.1:n.*270T>A
NR_027400.2:n.2179T>A
NR_134502.1:n.1718T>A
XR_001747940.2:n.2351T>A
XR_002957158.1:n.2533T>A
NM_000543.5:c.*270T>A MANE Select	NP_000534.3:n.*270T>A
NM_001007593.3:c.*270T>A	NP_001007594.2:n.*270T>A
NM_001318087.2:c.*659T>A	NP_001305016.1:n.*659T>A
NM_001318088.2:c.*270T>A	NP_001305017.1:n.*270T>A
NM_001365135.2:c.*270T>A	NP_001352064.1:n.*270T>A
NR_027400.3:n.2119T>A
NR_134502.2:n.1658T>A