Canonical Allele Identifier: CA379376433

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415532G>C (hg19) ; chr11:g.6394302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394302G>C , CM000673.2:g.6394302G>C	GRCh38
NC_000011.9:g.6415532G>C , CM000673.1:g.6415532G>C	GRCh37
NC_000011.8:g.6372108G>C	NCBI36
NG_011780.1:g.8878G>C
NG_029615.1:g.30113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1591G>C MANE Select	ENSP00000340409.4:p.Ala531Pro
ENST00000342245.8:c.1591G>C	ENSP00000340409.4:p.Ala531Pro
ENST00000526280.1:c.648G>C
ENST00000527275.5:c.1588G>C	ENSP00000435350.1:p.Ala530Pro
ENST00000531303.5:c.*442G>C	ENSP00000432625.1:n.*442G>C
ENST00000531336.1:n.579G>C
ENST00000533123.5:c.*318G>C	ENSP00000435950.1:n.*318G>C
ENST00000534405.5:c.*422G>C	ENSP00000434353.1:n.*422G>C
NM_000543.4:c.1591G>C	NP_000534.3:p.Ala531Pro
NM_001007593.2:c.1588G>C	NP_001007594.2:p.Ala530Pro
XM_005253075.3:c.*84G>C	XP_005253132.1:n.*84G>C
XM_011520303.1:c.1459G>C	XP_011518605.1:p.Ala487Pro
XM_011520304.1:c.*84G>C	XP_011518606.1:n.*84G>C
NM_001318087.1:c.*84G>C	NP_001305016.1:n.*84G>C
NM_001318088.1:c.670G>C	NP_001305017.1:p.Ala224Pro
NM_001365135.1:c.1459G>C	NP_001352064.1:p.Ala487Pro
NR_027400.2:n.1604G>C
NR_134502.1:n.1143G>C
XM_011520304.2:c.*84G>C	XP_011518606.1:n.*84G>C
XR_001747940.2:n.1776G>C
XR_002957158.1:n.1958G>C
NM_000543.5:c.1591G>C MANE Select	NP_000534.3:p.Ala531Pro
NM_001007593.3:c.1588G>C	NP_001007594.2:p.Ala530Pro
NM_001318087.2:c.*84G>C	NP_001305016.1:n.*84G>C
NM_001318088.2:c.670G>C	NP_001305017.1:p.Ala224Pro
NM_001365135.2:c.1459G>C	NP_001352064.1:p.Ala487Pro
NR_027400.3:n.1544G>C
NR_134502.2:n.1083G>C