Canonical Allele Identifier: CA379377470

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415823C>A (hg19) ; chr11:g.6394593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394593C>A , CM000673.2:g.6394593C>A	GRCh38
NC_000011.9:g.6415823C>A , CM000673.1:g.6415823C>A	GRCh37
NC_000011.8:g.6372399C>A	NCBI36
NG_011780.1:g.9169C>A
NG_029615.1:g.29822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1882C>A MANE Select	ENSP00000340409.4:p.Pro628Thr
ENST00000342245.8:c.1882C>A	ENSP00000340409.4:p.Pro628Thr
ENST00000526280.1:c.939C>A
ENST00000527275.5:c.1879C>A	ENSP00000435350.1:p.Pro627Thr
ENST00000531303.5:c.*733C>A	ENSP00000432625.1:n.*733C>A
ENST00000533123.5:c.*609C>A	ENSP00000435950.1:n.*609C>A
ENST00000534405.5:c.*713C>A	ENSP00000434353.1:n.*713C>A
NM_000543.4:c.1882C>A	NP_000534.3:p.Pro628Thr
NM_001007593.2:c.1879C>A	NP_001007594.2:p.Pro627Thr
XM_005253075.3:c.*375C>A	XP_005253132.1:n.*375C>A
XM_011520303.1:c.1750C>A	XP_011518605.1:p.Pro584Thr
NM_001318087.1:c.*375C>A	NP_001305016.1:n.*375C>A
NM_001318088.1:c.961C>A	NP_001305017.1:p.Pro321Thr
NM_001365135.1:c.1750C>A	NP_001352064.1:p.Pro584Thr
NR_027400.2:n.1895C>A
NR_134502.1:n.1434C>A
XR_001747940.2:n.2067C>A
XR_002957158.1:n.2249C>A
NM_000543.5:c.1882C>A MANE Select	NP_000534.3:p.Pro628Thr
NM_001007593.3:c.1879C>A	NP_001007594.2:p.Pro627Thr
NM_001318087.2:c.*375C>A	NP_001305016.1:n.*375C>A
NM_001318088.2:c.961C>A	NP_001305017.1:p.Pro321Thr
NM_001365135.2:c.1750C>A	NP_001352064.1:p.Pro584Thr
NR_027400.3:n.1835C>A
NR_134502.2:n.1374C>A