Canonical Allele Identifier: CA217303199

Gene: SMPD1

Linked Data

• dbSNP Id: rs35636371
• MyVariant Identifiers: chr11:g.6416118_6416119insT (hg19) ; chr11:g.6394888_6394889insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394888_6394889insT , CM000673.2:g.6394888_6394889insT	GRCh38
NC_000011.9:g.6416118_6416119insT , CM000673.1:g.6416118_6416119insT	GRCh37
NC_000011.8:g.6372694_6372695insT	NCBI36
NG_011780.1:g.9464_9465insT
NG_029615.1:g.29526_29527insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*281_*282insT MANE Select	ENSP00000340409.4:n.*281_*282insT
ENST00000342245.8:c.*281_*282insT	ENSP00000340409.4:n.*281_*282insT
ENST00000526280.1:c.1234_1235insT
ENST00000533123.5:c.*904_*905insT	ENSP00000435950.1:n.*904_*905insT
ENST00000534405.5:c.*1008_*1009insT	ENSP00000434353.1:n.*1008_*1009insT
NM_000543.4:c.*281_*282insT	NP_000534.3:n.*281_*282insT
NM_001007593.2:c.*281_*282insT	NP_001007594.2:n.*281_*282insT
XM_011520303.1:c.*281_*282insT	XP_011518605.1:n.*281_*282insT
NM_001318087.1:c.*670_*671insT	NP_001305016.1:n.*670_*671insT
NM_001318088.1:c.*281_*282insT	NP_001305017.1:n.*281_*282insT
NM_001365135.1:c.*281_*282insT	NP_001352064.1:n.*281_*282insT
NR_027400.2:n.2190_2191insT
NR_134502.1:n.1729_1730insT
XR_001747940.2:n.2362_2363insT
XR_002957158.1:n.2544_2545insT
NM_000543.5:c.*281_*282insT MANE Select	NP_000534.3:n.*281_*282insT
NM_001007593.3:c.*281_*282insT	NP_001007594.2:n.*281_*282insT
NM_001318087.2:c.*670_*671insT	NP_001305016.1:n.*670_*671insT
NM_001318088.2:c.*281_*282insT	NP_001305017.1:n.*281_*282insT
NM_001365135.2:c.*281_*282insT	NP_001352064.1:n.*281_*282insT
NR_027400.3:n.2130_2131insT
NR_134502.2:n.1669_1670insT