Canonical Allele Identifier: CA1950150577

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394941T= , CM000673.2:g.6394941T=	GRCh38
NC_000011.9:g.6416171T= , CM000673.1:g.6416171T=	GRCh37
NC_000011.8:g.6372747T=	NCBI36
NG_011780.1:g.9517T=
NG_029615.1:g.29474A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*334T= MANE Select	ENSP00000340409.4:n.*334T=
ENST00000342245.8:c.*334T=	ENSP00000340409.4:n.*334T=
ENST00000526280.1:c.1287T=
ENST00000533123.5:c.*957T=	ENSP00000435950.1:n.*957T=
ENST00000534405.5:c.*1061T=	ENSP00000434353.1:n.*1061T=
NM_000543.4:c.*334T=	NP_000534.3:n.*334T=
NM_001007593.2:c.*334T=	NP_001007594.2:n.*334T=
XM_011520303.1:c.*334T=	XP_011518605.1:n.*334T=
NM_001318087.1:c.*723T=	NP_001305016.1:n.*723T=
NM_001318088.1:c.*334T=	NP_001305017.1:n.*334T=
NM_001365135.1:c.*334T=	NP_001352064.1:n.*334T=
NR_027400.2:n.2243T=
NR_134502.1:n.1782T=
XR_001747940.2:n.2415T=
XR_002957158.1:n.2597T=
NM_000543.5:c.*334T= MANE Select	NP_000534.3:n.*334T=
NM_001007593.3:c.*334T=	NP_001007594.2:n.*334T=
NM_001318087.2:c.*723T=	NP_001305016.1:n.*723T=
NM_001318088.2:c.*334T=	NP_001305017.1:n.*334T=
NM_001365135.2:c.*334T=	NP_001352064.1:n.*334T=
NR_027400.3:n.2183T=
NR_134502.2:n.1722T=