Canonical Allele Identifier: CA217299184

Gene: SMPD1

Linked Data

• dbSNP Id: rs370369788
• gnomAD v2: 11-6412271-T-TCACTGAGTTTGCTCCCC
• gnomAD v3: 11-6391041-T-TCACTGAGTTTGCTCCCC
• gnomAD v4: 11-6391041-T-TCACTGAGTTTGCTCCCC
• MyVariant Identifiers: chr11:g.6412271_6412272insCACTGAGTTTGCTCCCC (hg19) ; chr11:g.6391041_6391042insCACTGAGTTTGCTCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391042_6391058dup , CM000673.2:g.6391042_6391058dup	GRCh38
NC_000011.9:g.6412272_6412288dup , CM000673.1:g.6412272_6412288dup	GRCh37
NC_000011.8:g.6368848_6368864dup	NCBI36
NG_011780.1:g.5618_5634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+126_318+142dup MANE Select	ENSP00000340409.4:n.318+126_318+142dup
ENST00000342245.8:c.318+126_318+142dup	ENSP00000340409.4:n.318+126_318+142dup
ENST00000527275.5:c.318+126_318+142dup	ENSP00000435350.1:n.318+126_318+142dup
ENST00000530395.1:c.-96+403_-96+419dup	ENSP00000431479.1:n.-96+403_-96+419dup
ENST00000531303.5:c.318+126_318+142dup	ENSP00000432625.1:n.318+126_318+142dup
ENST00000533123.5:c.318+126_318+142dup	ENSP00000435950.1:n.318+126_318+142dup
ENST00000533196.1:n.374+229_374+245dup
ENST00000534405.5:c.318+126_318+142dup	ENSP00000434353.1:n.318+126_318+142dup
NM_000543.4:c.318+126_318+142dup	NP_000534.3:n.318+126_318+142dup
NM_001007593.2:c.318+126_318+142dup	NP_001007594.2:n.318+126_318+142dup
XM_005253075.3:c.318+126_318+142dup	XP_005253132.1:n.318+126_318+142dup
XM_011520303.1:c.318+126_318+142dup	XP_011518605.1:n.318+126_318+142dup
XM_011520304.1:c.318+126_318+142dup	XP_011518606.1:n.318+126_318+142dup
XR_930886.1:n.616+126_616+142dup
NM_001318087.1:c.318+126_318+142dup	NP_001305016.1:n.318+126_318+142dup
NM_001318088.1:c.-644+126_-644+142dup	NP_001305017.1:n.-644+126_-644+142dup
NM_001365135.1:c.318+126_318+142dup	NP_001352064.1:n.318+126_318+142dup
NR_027400.2:n.503+126_503+142dup
NR_134502.1:n.503+126_503+142dup
XM_011520304.2:c.318+126_318+142dup	XP_011518606.1:n.318+126_318+142dup
XR_001747940.2:n.443+126_443+142dup
XR_002957158.1:n.443+126_443+142dup
NM_000543.5:c.318+126_318+142dup MANE Select	NP_000534.3:n.318+126_318+142dup
NM_001007593.3:c.318+126_318+142dup	NP_001007594.2:n.318+126_318+142dup
NM_001318087.2:c.318+126_318+142dup	NP_001305016.1:n.318+126_318+142dup
NM_001318088.2:c.-644+126_-644+142dup	NP_001305017.1:n.-644+126_-644+142dup
NM_001365135.2:c.318+126_318+142dup	NP_001352064.1:n.318+126_318+142dup
NR_027400.3:n.443+126_443+142dup
NR_134502.2:n.443+126_443+142dup