Canonical Allele Identifier: CA379376919

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415668A>C (hg19) ; chr11:g.6394438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394438A>C , CM000673.2:g.6394438A>C	GRCh38
NC_000011.9:g.6415668A>C , CM000673.1:g.6415668A>C	GRCh37
NC_000011.8:g.6372244A>C	NCBI36
NG_011780.1:g.9014A>C
NG_029615.1:g.29977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1727A>C MANE Select	ENSP00000340409.4:p.Tyr576Ser
ENST00000342245.8:c.1727A>C	ENSP00000340409.4:p.Tyr576Ser
ENST00000526280.1:c.784A>C
ENST00000527275.5:c.1724A>C	ENSP00000435350.1:p.Tyr575Ser
ENST00000531303.5:c.*578A>C	ENSP00000432625.1:n.*578A>C
ENST00000533123.5:c.*454A>C	ENSP00000435950.1:n.*454A>C
ENST00000534405.5:c.*558A>C	ENSP00000434353.1:n.*558A>C
NM_000543.4:c.1727A>C	NP_000534.3:p.Tyr576Ser
NM_001007593.2:c.1724A>C	NP_001007594.2:p.Tyr575Ser
XM_005253075.3:c.*220A>C	XP_005253132.1:n.*220A>C
XM_011520303.1:c.1595A>C	XP_011518605.1:p.Tyr532Ser
XM_011520304.1:c.*220A>C	XP_011518606.1:n.*220A>C
NM_001318087.1:c.*220A>C	NP_001305016.1:n.*220A>C
NM_001318088.1:c.806A>C	NP_001305017.1:p.Tyr269Ser
NM_001365135.1:c.1595A>C	NP_001352064.1:p.Tyr532Ser
NR_027400.2:n.1740A>C
NR_134502.1:n.1279A>C
XM_011520304.2:c.*220A>C	XP_011518606.1:n.*220A>C
XR_001747940.2:n.1912A>C
XR_002957158.1:n.2094A>C
NM_000543.5:c.1727A>C MANE Select	NP_000534.3:p.Tyr576Ser
NM_001007593.3:c.1724A>C	NP_001007594.2:p.Tyr575Ser
NM_001318087.2:c.*220A>C	NP_001305016.1:n.*220A>C
NM_001318088.2:c.806A>C	NP_001305017.1:p.Tyr269Ser
NM_001365135.2:c.1595A>C	NP_001352064.1:p.Tyr532Ser
NR_027400.3:n.1680A>C
NR_134502.2:n.1219A>C