Canonical Allele Identifier: CA379376283

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415509T>C (hg19) ; chr11:g.6394279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394279T>C , CM000673.2:g.6394279T>C	GRCh38
NC_000011.9:g.6415509T>C , CM000673.1:g.6415509T>C	GRCh37
NC_000011.8:g.6372085T>C	NCBI36
NG_011780.1:g.8855T>C
NG_029615.1:g.30136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1568T>C MANE Select	ENSP00000340409.4:p.Leu523Pro
ENST00000342245.8:c.1568T>C	ENSP00000340409.4:p.Leu523Pro
ENST00000526280.1:c.625T>C
ENST00000527275.5:c.1565T>C	ENSP00000435350.1:p.Leu522Pro
ENST00000531303.5:c.*419T>C	ENSP00000432625.1:n.*419T>C
ENST00000531336.1:n.556T>C
ENST00000533123.5:c.*295T>C	ENSP00000435950.1:n.*295T>C
ENST00000534405.5:c.*399T>C	ENSP00000434353.1:n.*399T>C
NM_000543.4:c.1568T>C	NP_000534.3:p.Leu523Pro
NM_001007593.2:c.1565T>C	NP_001007594.2:p.Leu522Pro
XM_005253075.3:c.*61T>C	XP_005253132.1:n.*61T>C
XM_011520303.1:c.1436T>C	XP_011518605.1:p.Leu479Pro
XM_011520304.1:c.*61T>C	XP_011518606.1:n.*61T>C
NM_001318087.1:c.*61T>C	NP_001305016.1:n.*61T>C
NM_001318088.1:c.647T>C	NP_001305017.1:p.Leu216Pro
NM_001365135.1:c.1436T>C	NP_001352064.1:p.Leu479Pro
NR_027400.2:n.1581T>C
NR_134502.1:n.1120T>C
XM_011520304.2:c.*61T>C	XP_011518606.1:n.*61T>C
XR_001747940.2:n.1753T>C
XR_002957158.1:n.1935T>C
NM_000543.5:c.1568T>C MANE Select	NP_000534.3:p.Leu523Pro
NM_001007593.3:c.1565T>C	NP_001007594.2:p.Leu522Pro
NM_001318087.2:c.*61T>C	NP_001305016.1:n.*61T>C
NM_001318088.2:c.647T>C	NP_001305017.1:p.Leu216Pro
NM_001365135.2:c.1436T>C	NP_001352064.1:p.Leu479Pro
NR_027400.3:n.1521T>C
NR_134502.2:n.1060T>C