Canonical Allele Identifier: CA1950146594

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392149_6392150delinsAC , CM000673.2:g.6392149_6392150delinsAC	GRCh38
NC_000011.9:g.6413379_6413380delinsAC , CM000673.1:g.6413379_6413380delinsAC	GRCh37
NC_000011.8:g.6369955_6369956delinsAC	NCBI36
NG_011780.1:g.6725_6726delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1084_1085delinsAC MANE Select	ENSP00000340409.4:p.Thr362=
ENST00000342245.8:c.1084_1085delinsAC	ENSP00000340409.4:p.Thr362=
ENST00000526280.1:c.273_274delinsAC
ENST00000527275.5:c.1081_1082delinsAC	ENSP00000435350.1:p.Thr361=
ENST00000531303.5:c.438+646_438+647delinsAC	ENSP00000432625.1:n.438+646_438+647delinsAC
ENST00000533123.5:c.1084_1085delinsAC	ENSP00000435950.1:p.Thr362=
ENST00000534405.5:c.1084_1085delinsAC	ENSP00000434353.1:p.Thr362=
NM_000543.4:c.1084_1085delinsAC	NP_000534.3:p.Thr362=
NM_001007593.2:c.1081_1082delinsAC	NP_001007594.2:p.Thr361=
XM_005253075.3:c.1084_1085delinsAC	XP_005253132.1:p.Thr362=
XM_011520303.1:c.1084_1085delinsAC	XP_011518605.1:p.Thr362=
XM_011520304.1:c.1084_1085delinsAC	XP_011518606.1:p.Thr362=
XR_930886.1:n.1382_1383delinsAC
NM_001318087.1:c.1084_1085delinsAC	NP_001305016.1:p.Thr362=
NM_001318088.1:c.123_124delinsAC	NP_001305017.1:p.Ala41=
NM_001365135.1:c.1084_1085delinsAC	NP_001352064.1:p.Thr362=
NR_027400.2:n.1269_1270delinsAC
NR_134502.1:n.623+646_623+647delinsAC
XM_011520304.2:c.1084_1085delinsAC	XP_011518606.1:p.Thr362=
XR_001747940.2:n.1209_1210delinsAC
XR_002957158.1:n.1209_1210delinsAC
NM_000543.5:c.1084_1085delinsAC MANE Select	NP_000534.3:p.Thr362=
NM_001007593.3:c.1081_1082delinsAC	NP_001007594.2:p.Thr361=
NM_001318087.2:c.1084_1085delinsAC	NP_001305016.1:p.Thr362=
NM_001318088.2:c.123_124delinsAC	NP_001305017.1:p.Ala41=
NM_001365135.2:c.1084_1085delinsAC	NP_001352064.1:p.Thr362=
NR_027400.3:n.1209_1210delinsAC
NR_134502.2:n.563+646_563+647delinsAC