Canonical Allele Identifier: CA379376911

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415665T>C (hg19) ; chr11:g.6394435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394435T>C , CM000673.2:g.6394435T>C	GRCh38
NC_000011.9:g.6415665T>C , CM000673.1:g.6415665T>C	GRCh37
NC_000011.8:g.6372241T>C	NCBI36
NG_011780.1:g.9011T>C
NG_029615.1:g.29980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1724T>C MANE Select	ENSP00000340409.4:p.Leu575Pro
ENST00000342245.8:c.1724T>C	ENSP00000340409.4:p.Leu575Pro
ENST00000526280.1:c.781T>C
ENST00000527275.5:c.1721T>C	ENSP00000435350.1:p.Leu574Pro
ENST00000531303.5:c.*575T>C	ENSP00000432625.1:n.*575T>C
ENST00000533123.5:c.*451T>C	ENSP00000435950.1:n.*451T>C
ENST00000534405.5:c.*555T>C	ENSP00000434353.1:n.*555T>C
NM_000543.4:c.1724T>C	NP_000534.3:p.Leu575Pro
NM_001007593.2:c.1721T>C	NP_001007594.2:p.Leu574Pro
XM_005253075.3:c.*217T>C	XP_005253132.1:n.*217T>C
XM_011520303.1:c.1592T>C	XP_011518605.1:p.Leu531Pro
XM_011520304.1:c.*217T>C	XP_011518606.1:n.*217T>C
NM_001318087.1:c.*217T>C	NP_001305016.1:n.*217T>C
NM_001318088.1:c.803T>C	NP_001305017.1:p.Leu268Pro
NM_001365135.1:c.1592T>C	NP_001352064.1:p.Leu531Pro
NR_027400.2:n.1737T>C
NR_134502.1:n.1276T>C
XM_011520304.2:c.*217T>C	XP_011518606.1:n.*217T>C
XR_001747940.2:n.1909T>C
XR_002957158.1:n.2091T>C
NM_000543.5:c.1724T>C MANE Select	NP_000534.3:p.Leu575Pro
NM_001007593.3:c.1721T>C	NP_001007594.2:p.Leu574Pro
NM_001318087.2:c.*217T>C	NP_001305016.1:n.*217T>C
NM_001318088.2:c.803T>C	NP_001305017.1:p.Leu268Pro
NM_001365135.2:c.1592T>C	NP_001352064.1:p.Leu531Pro
NR_027400.3:n.1677T>C
NR_134502.2:n.1216T>C