Canonical Allele Identifier: CA379376566

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415571A>C (hg19) ; chr11:g.6394341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394341A>C , CM000673.2:g.6394341A>C	GRCh38
NC_000011.9:g.6415571A>C , CM000673.1:g.6415571A>C	GRCh37
NC_000011.8:g.6372147A>C	NCBI36
NG_011780.1:g.8917A>C
NG_029615.1:g.30074T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1630A>C MANE Select	ENSP00000340409.4:p.Thr544Pro
ENST00000342245.8:c.1630A>C	ENSP00000340409.4:p.Thr544Pro
ENST00000526280.1:c.687A>C
ENST00000527275.5:c.1627A>C	ENSP00000435350.1:p.Thr543Pro
ENST00000531303.5:c.*481A>C	ENSP00000432625.1:n.*481A>C
ENST00000531336.1:n.618A>C
ENST00000533123.5:c.*357A>C	ENSP00000435950.1:n.*357A>C
ENST00000534405.5:c.*461A>C	ENSP00000434353.1:n.*461A>C
NM_000543.4:c.1630A>C	NP_000534.3:p.Thr544Pro
NM_001007593.2:c.1627A>C	NP_001007594.2:p.Thr543Pro
XM_005253075.3:c.*123A>C	XP_005253132.1:n.*123A>C
XM_011520303.1:c.1498A>C	XP_011518605.1:p.Thr500Pro
XM_011520304.1:c.*123A>C	XP_011518606.1:n.*123A>C
NM_001318087.1:c.*123A>C	NP_001305016.1:n.*123A>C
NM_001318088.1:c.709A>C	NP_001305017.1:p.Thr237Pro
NM_001365135.1:c.1498A>C	NP_001352064.1:p.Thr500Pro
NR_027400.2:n.1643A>C
NR_134502.1:n.1182A>C
XM_011520304.2:c.*123A>C	XP_011518606.1:n.*123A>C
XR_001747940.2:n.1815A>C
XR_002957158.1:n.1997A>C
NM_000543.5:c.1630A>C MANE Select	NP_000534.3:p.Thr544Pro
NM_001007593.3:c.1627A>C	NP_001007594.2:p.Thr543Pro
NM_001318087.2:c.*123A>C	NP_001305016.1:n.*123A>C
NM_001318088.2:c.709A>C	NP_001305017.1:p.Thr237Pro
NM_001365135.2:c.1498A>C	NP_001352064.1:p.Thr500Pro
NR_027400.3:n.1583A>C
NR_134502.2:n.1122A>C