Canonical Allele Identifier: CA2695213125

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392127_6392130dup , CM000673.2:g.6392127_6392130dup	GRCh38
NC_000011.9:g.6413357_6413360dup , CM000673.1:g.6413357_6413360dup	GRCh37
NC_000011.8:g.6369933_6369936dup	NCBI36
NG_011780.1:g.6703_6706dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1062_1065dup MANE Select	ENSP00000340409.4:p.Pro356AlafsTer?
ENST00000342245.8:c.1062_1065dup	ENSP00000340409.4:p.Pro356AlafsTer?
ENST00000526280.1:c.251_254dup
ENST00000527275.5:c.1059_1062dup	ENSP00000435350.1:p.Pro355AlafsTer?
ENST00000531303.5:c.438+624_438+627dup	ENSP00000432625.1:n.438+624_438+627dup
ENST00000533123.5:c.1062_1065dup	ENSP00000435950.1:p.Pro356AlafsTer?
ENST00000534405.5:c.1062_1065dup	ENSP00000434353.1:p.Pro356AlafsTer?
NM_000543.4:c.1062_1065dup	NP_000534.3:p.Pro356AlafsTer?
NM_001007593.2:c.1059_1062dup	NP_001007594.2:p.Pro355AlafsTer?
XM_005253075.3:c.1062_1065dup	XP_005253132.1:p.Pro356AlafsTer?
XM_011520303.1:c.1062_1065dup	XP_011518605.1:p.Pro356AlafsTer?
XM_011520304.1:c.1062_1065dup	XP_011518606.1:p.Pro356AlafsTer?
XR_930886.1:n.1360_1363dup
NM_001318087.1:c.1062_1065dup	NP_001305016.1:p.Pro356AlafsTer?
NM_001318088.1:c.101_104dup	NP_001305017.1:p.Cys35TrpfsTer?
NM_001365135.1:c.1062_1065dup	NP_001352064.1:p.Pro356AlafsTer?
NR_027400.2:n.1247_1250dup
NR_134502.1:n.623+624_623+627dup
XM_011520304.2:c.1062_1065dup	XP_011518606.1:p.Pro356AlafsTer?
XR_001747940.2:n.1187_1190dup
XR_002957158.1:n.1187_1190dup
NM_000543.5:c.1062_1065dup MANE Select	NP_000534.3:p.Pro356AlafsTer?
NM_001007593.3:c.1059_1062dup	NP_001007594.2:p.Pro355AlafsTer?
NM_001318087.2:c.1062_1065dup	NP_001305016.1:p.Pro356AlafsTer?
NM_001318088.2:c.101_104dup	NP_001305017.1:p.Cys35TrpfsTer?
NM_001365135.2:c.1062_1065dup	NP_001352064.1:p.Pro356AlafsTer?
NR_027400.3:n.1187_1190dup
NR_134502.2:n.563+624_563+627dup