Canonical Allele Identifier: CA645591974

Gene: SMPD1

Linked Data

• COSMIC: COSM1703507 ; COSM1703508

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391964_6391965delinsTT , CM000673.2:g.6391964_6391965delinsTT	GRCh38
NC_000011.9:g.6413194_6413195delinsTT , CM000673.1:g.6413194_6413195delinsTT	GRCh37
NC_000011.8:g.6369770_6369771delinsTT	NCBI36
NG_011780.1:g.6540_6541delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.899_900delinsTT MANE Select	ENSP00000340409.4:p.Thr300Ile
ENST00000342245.8:c.899_900delinsTT	ENSP00000340409.4:p.Thr300Ile
ENST00000526280.1:c.88_89delinsTT
ENST00000527275.5:c.896_897delinsTT	ENSP00000435350.1:p.Thr299Ile
ENST00000530395.1:c.80_81delinsTT	ENSP00000431479.1:p.Thr27Ile
ENST00000531303.5:c.438+461_438+462delinsTT	ENSP00000432625.1:n.438+461_438+462delinsTT
ENST00000533123.5:c.899_900delinsTT	ENSP00000435950.1:p.Thr300Ile
ENST00000533196.1:n.375-42_375-41delinsTT
ENST00000534405.5:c.899_900delinsTT	ENSP00000434353.1:p.Thr300Ile
NM_000543.4:c.899_900delinsTT	NP_000534.3:p.Thr300Ile
NM_001007593.2:c.896_897delinsTT	NP_001007594.2:p.Thr299Ile
XM_005253075.3:c.899_900delinsTT	XP_005253132.1:p.Thr300Ile
XM_011520303.1:c.899_900delinsTT	XP_011518605.1:p.Thr300Ile
XM_011520304.1:c.899_900delinsTT	XP_011518606.1:p.Thr300Ile
XR_930886.1:n.1197_1198delinsTT
NM_001318087.1:c.899_900delinsTT	NP_001305016.1:p.Thr300Ile
NM_001318088.1:c.-63_-62delinsTT	NP_001305017.1:n.-63_-62delinsTT
NM_001365135.1:c.899_900delinsTT	NP_001352064.1:p.Thr300Ile
NR_027400.2:n.1084_1085delinsTT
NR_134502.1:n.623+461_623+462delinsTT
XM_011520304.2:c.899_900delinsTT	XP_011518606.1:p.Thr300Ile
XR_001747940.2:n.1024_1025delinsTT
XR_002957158.1:n.1024_1025delinsTT
NM_000543.5:c.899_900delinsTT MANE Select	NP_000534.3:p.Thr300Ile
NM_001007593.3:c.896_897delinsTT	NP_001007594.2:p.Thr299Ile
NM_001318087.2:c.899_900delinsTT	NP_001305016.1:p.Thr300Ile
NM_001318088.2:c.-63_-62delinsTT	NP_001305017.1:n.-63_-62delinsTT
NM_001365135.2:c.899_900delinsTT	NP_001352064.1:p.Thr300Ile
NR_027400.3:n.1024_1025delinsTT
NR_134502.2:n.563+461_563+462delinsTT