Canonical Allele Identifier: CA379376974

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394452-C-A
• MyVariant Identifiers: chr11:g.6415682C>A (hg19) ; chr11:g.6394452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394452C>A , CM000673.2:g.6394452C>A	GRCh38
NC_000011.9:g.6415682C>A , CM000673.1:g.6415682C>A	GRCh37
NC_000011.8:g.6372258C>A	NCBI36
NG_011780.1:g.9028C>A
NG_029615.1:g.29963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1741C>A MANE Select	ENSP00000340409.4:p.Pro581Thr
ENST00000342245.8:c.1741C>A	ENSP00000340409.4:p.Pro581Thr
ENST00000526280.1:c.798C>A
ENST00000527275.5:c.1738C>A	ENSP00000435350.1:p.Pro580Thr
ENST00000531303.5:c.*592C>A	ENSP00000432625.1:n.*592C>A
ENST00000533123.5:c.*468C>A	ENSP00000435950.1:n.*468C>A
ENST00000534405.5:c.*572C>A	ENSP00000434353.1:n.*572C>A
NM_000543.4:c.1741C>A	NP_000534.3:p.Pro581Thr
NM_001007593.2:c.1738C>A	NP_001007594.2:p.Pro580Thr
XM_005253075.3:c.*234C>A	XP_005253132.1:n.*234C>A
XM_011520303.1:c.1609C>A	XP_011518605.1:p.Pro537Thr
XM_011520304.1:c.*234C>A	XP_011518606.1:n.*234C>A
NM_001318087.1:c.*234C>A	NP_001305016.1:n.*234C>A
NM_001318088.1:c.820C>A	NP_001305017.1:p.Pro274Thr
NM_001365135.1:c.1609C>A	NP_001352064.1:p.Pro537Thr
NR_027400.2:n.1754C>A
NR_134502.1:n.1293C>A
XM_011520304.2:c.*234C>A	XP_011518606.1:n.*234C>A
XR_001747940.2:n.1926C>A
XR_002957158.1:n.2108C>A
NM_000543.5:c.1741C>A MANE Select	NP_000534.3:p.Pro581Thr
NM_001007593.3:c.1738C>A	NP_001007594.2:p.Pro580Thr
NM_001318087.2:c.*234C>A	NP_001305016.1:n.*234C>A
NM_001318088.2:c.820C>A	NP_001305017.1:p.Pro274Thr
NM_001365135.2:c.1609C>A	NP_001352064.1:p.Pro537Thr
NR_027400.3:n.1694C>A
NR_134502.2:n.1233C>A