Canonical Allele Identifier: CA679182859

Gene: SMPD1

Linked Data

• dbSNP Id: rs1251086962
• MyVariant Identifiers: chr11:g.6416179C>T (hg19) ; chr11:g.6394949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394949C>T , CM000673.2:g.6394949C>T	GRCh38
NC_000011.9:g.6416179C>T , CM000673.1:g.6416179C>T	GRCh37
NC_000011.8:g.6372755C>T	NCBI36
NG_011780.1:g.9525C>T
NG_029615.1:g.29466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*342C>T MANE Select	ENSP00000340409.4:n.*342C>T
ENST00000342245.8:c.*342C>T	ENSP00000340409.4:n.*342C>T
ENST00000526280.1:c.1295C>T
ENST00000533123.5:c.*965C>T	ENSP00000435950.1:n.*965C>T
ENST00000534405.5:c.*1069C>T	ENSP00000434353.1:n.*1069C>T
NM_000543.4:c.*342C>T	NP_000534.3:n.*342C>T
NM_001007593.2:c.*342C>T	NP_001007594.2:n.*342C>T
XM_011520303.1:c.*342C>T	XP_011518605.1:n.*342C>T
NM_001318087.1:c.*731C>T	NP_001305016.1:n.*731C>T
NM_001318088.1:c.*342C>T	NP_001305017.1:n.*342C>T
NM_001365135.1:c.*342C>T	NP_001352064.1:n.*342C>T
NR_027400.2:n.2251C>T
NR_134502.1:n.1790C>T
XR_001747940.2:n.2423C>T
XR_002957158.1:n.2605C>T
NM_000543.5:c.*342C>T MANE Select	NP_000534.3:n.*342C>T
NM_001007593.3:c.*342C>T	NP_001007594.2:n.*342C>T
NM_001318087.2:c.*731C>T	NP_001305016.1:n.*731C>T
NM_001318088.2:c.*342C>T	NP_001305017.1:n.*342C>T
NM_001365135.2:c.*342C>T	NP_001352064.1:n.*342C>T
NR_027400.3:n.2191C>T
NR_134502.2:n.1730C>T