Canonical Allele Identifier: CA679148471

Gene: SMPD1

Linked Data

• dbSNP Id: rs1405982098
• gnomAD v4: 11-6390462-C-T
• MyVariant Identifiers: chr11:g.6411692C>T (hg19) ; chr11:g.6390462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390462C>T , CM000673.2:g.6390462C>T	GRCh38
NC_000011.9:g.6411692C>T , CM000673.1:g.6411692C>T	GRCh37
NC_000011.8:g.6368268C>T	NCBI36
NG_011780.1:g.5038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-137C>T	ENSP00000340409.4:n.-137C>T
ENST00000530395.1:c.-273C>T	ENSP00000431479.1:n.-273C>T
ENST00000533196.1:n.23C>T
NM_000543.4:c.-137C>T	NP_000534.3:n.-137C>T
NM_001007593.2:c.-137C>T	NP_001007594.2:n.-137C>T
XM_005253075.3:c.-137C>T	XP_005253132.1:n.-137C>T
XM_011520303.1:c.-137C>T	XP_011518605.1:n.-137C>T
XM_011520304.1:c.-137C>T	XP_011518606.1:n.-137C>T
XR_930886.1:n.162C>T
NM_001318087.1:c.-137C>T	NP_001305016.1:n.-137C>T
NM_001318088.1:c.-1098C>T	NP_001305017.1:n.-1098C>T
NR_027400.2:n.49C>T
NR_134502.1:n.49C>T