Canonical Allele Identifier: CA379371059

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391877-C-G
• MyVariant Identifiers: chr11:g.6413107C>G (hg19) ; chr11:g.6391877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391877C>G , CM000673.2:g.6391877C>G	GRCh38
NC_000011.9:g.6413107C>G , CM000673.1:g.6413107C>G	GRCh37
NC_000011.8:g.6369683C>G	NCBI36
NG_011780.1:g.6453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.812C>G MANE Select	ENSP00000340409.4:p.Pro271Arg
ENST00000342245.8:c.812C>G	ENSP00000340409.4:p.Pro271Arg
ENST00000526280.1:c.1C>G
ENST00000527275.5:c.809C>G	ENSP00000435350.1:p.Pro270Arg
ENST00000530395.1:c.-8C>G	ENSP00000431479.1:n.-8C>G
ENST00000531303.5:c.438+374C>G	ENSP00000432625.1:n.438+374C>G
ENST00000533123.5:c.812C>G	ENSP00000435950.1:p.Pro271Arg
ENST00000533196.1:n.375-129C>G
ENST00000534405.5:c.812C>G	ENSP00000434353.1:p.Pro271Arg
NM_000543.4:c.812C>G	NP_000534.3:p.Pro271Arg
NM_001007593.2:c.809C>G	NP_001007594.2:p.Pro270Arg
XM_005253075.3:c.812C>G	XP_005253132.1:p.Pro271Arg
XM_011520303.1:c.812C>G	XP_011518605.1:p.Pro271Arg
XM_011520304.1:c.812C>G	XP_011518606.1:p.Pro271Arg
XR_930886.1:n.1110C>G
NM_001318087.1:c.812C>G	NP_001305016.1:p.Pro271Arg
NM_001318088.1:c.-150C>G	NP_001305017.1:n.-150C>G
NM_001365135.1:c.812C>G	NP_001352064.1:p.Pro271Arg
NR_027400.2:n.997C>G
NR_134502.1:n.623+374C>G
XM_011520304.2:c.812C>G	XP_011518606.1:p.Pro271Arg
XR_001747940.2:n.937C>G
XR_002957158.1:n.937C>G
NM_000543.5:c.812C>G MANE Select	NP_000534.3:p.Pro271Arg
NM_001007593.3:c.809C>G	NP_001007594.2:p.Pro270Arg
NM_001318087.2:c.812C>G	NP_001305016.1:p.Pro271Arg
NM_001318088.2:c.-150C>G	NP_001305017.1:n.-150C>G
NM_001365135.2:c.812C>G	NP_001352064.1:p.Pro271Arg
NR_027400.3:n.937C>G
NR_134502.2:n.563+374C>G