Canonical Allele Identifier: CA2612224276

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394783-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394783G>T , CM000673.2:g.6394783G>T	GRCh38
NC_000011.9:g.6416013G>T , CM000673.1:g.6416013G>T	GRCh37
NC_000011.8:g.6372589G>T	NCBI36
NG_011780.1:g.9359G>T
NG_029615.1:g.29632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*176G>T MANE Select	ENSP00000340409.4:n.*176G>T
ENST00000342245.8:c.*176G>T	ENSP00000340409.4:n.*176G>T
ENST00000526280.1:c.1129G>T
ENST00000533123.5:c.*799G>T	ENSP00000435950.1:n.*799G>T
ENST00000534405.5:c.*903G>T	ENSP00000434353.1:n.*903G>T
NM_000543.4:c.*176G>T	NP_000534.3:n.*176G>T
NM_001007593.2:c.*176G>T	NP_001007594.2:n.*176G>T
XM_011520303.1:c.*176G>T	XP_011518605.1:n.*176G>T
NM_001318087.1:c.*565G>T	NP_001305016.1:n.*565G>T
NM_001318088.1:c.*176G>T	NP_001305017.1:n.*176G>T
NM_001365135.1:c.*176G>T	NP_001352064.1:n.*176G>T
NR_027400.2:n.2085G>T
NR_134502.1:n.1624G>T
XR_001747940.2:n.2257G>T
XR_002957158.1:n.2439G>T
NM_000543.5:c.*176G>T MANE Select	NP_000534.3:n.*176G>T
NM_001007593.3:c.*176G>T	NP_001007594.2:n.*176G>T
NM_001318087.2:c.*565G>T	NP_001305016.1:n.*565G>T
NM_001318088.2:c.*176G>T	NP_001305017.1:n.*176G>T
NM_001365135.2:c.*176G>T	NP_001352064.1:n.*176G>T
NR_027400.3:n.2025G>T
NR_134502.2:n.1564G>T