Canonical Allele Identifier: CA379376333

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415516G>C (hg19) ; chr11:g.6394286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394286G>C , CM000673.2:g.6394286G>C	GRCh38
NC_000011.9:g.6415516G>C , CM000673.1:g.6415516G>C	GRCh37
NC_000011.8:g.6372092G>C	NCBI36
NG_011780.1:g.8862G>C
NG_029615.1:g.30129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1575G>C MANE Select	ENSP00000340409.4:p.Gln525His
ENST00000342245.8:c.1575G>C	ENSP00000340409.4:p.Gln525His
ENST00000526280.1:c.632G>C
ENST00000527275.5:c.1572G>C	ENSP00000435350.1:p.Gln524His
ENST00000531303.5:c.*426G>C	ENSP00000432625.1:n.*426G>C
ENST00000531336.1:n.563G>C
ENST00000533123.5:c.*302G>C	ENSP00000435950.1:n.*302G>C
ENST00000534405.5:c.*406G>C	ENSP00000434353.1:n.*406G>C
NM_000543.4:c.1575G>C	NP_000534.3:p.Gln525His
NM_001007593.2:c.1572G>C	NP_001007594.2:p.Gln524His
XM_005253075.3:c.*68G>C	XP_005253132.1:n.*68G>C
XM_011520303.1:c.1443G>C	XP_011518605.1:p.Gln481His
XM_011520304.1:c.*68G>C	XP_011518606.1:n.*68G>C
NM_001318087.1:c.*68G>C	NP_001305016.1:n.*68G>C
NM_001318088.1:c.654G>C	NP_001305017.1:p.Gln218His
NM_001365135.1:c.1443G>C	NP_001352064.1:p.Gln481His
NR_027400.2:n.1588G>C
NR_134502.1:n.1127G>C
XM_011520304.2:c.*68G>C	XP_011518606.1:n.*68G>C
XR_001747940.2:n.1760G>C
XR_002957158.1:n.1942G>C
NM_000543.5:c.1575G>C MANE Select	NP_000534.3:p.Gln525His
NM_001007593.3:c.1572G>C	NP_001007594.2:p.Gln524His
NM_001318087.2:c.*68G>C	NP_001305016.1:n.*68G>C
NM_001318088.2:c.654G>C	NP_001305017.1:p.Gln218His
NM_001365135.2:c.1443G>C	NP_001352064.1:p.Gln481His
NR_027400.3:n.1528G>C
NR_134502.2:n.1067G>C