Canonical Allele Identifier: CA379374502

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414903T>G (hg19) ; chr11:g.6393673T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393673T>G , CM000673.2:g.6393673T>G	GRCh38
NC_000011.9:g.6414903T>G , CM000673.1:g.6414903T>G	GRCh37
NC_000011.8:g.6371479T>G	NCBI36
NG_011780.1:g.8249T>G
NG_029615.1:g.30742A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1320T>G MANE Select	ENSP00000340409.4:p.Asn440Lys
ENST00000342245.8:c.1320T>G	ENSP00000340409.4:p.Asn440Lys
ENST00000526280.1:c.377T>G
ENST00000527275.5:c.1317T>G	ENSP00000435350.1:p.Asn439Lys
ENST00000531303.5:c.*151T>G	ENSP00000432625.1:n.*151T>G
ENST00000531336.1:n.152T>G
ENST00000532367.1:n.156T>G
ENST00000533123.5:c.*47T>G	ENSP00000435950.1:n.*47T>G
ENST00000534405.5:c.*151T>G	ENSP00000434353.1:n.*151T>G
NM_000543.4:c.1320T>G	NP_000534.3:p.Asn440Lys
NM_001007593.2:c.1317T>G	NP_001007594.2:p.Asn439Lys
XM_005253075.3:c.1320T>G	XP_005253132.1:p.Asn440Lys
XM_011520303.1:c.1188T>G	XP_011518605.1:p.Asn396Lys
XM_011520304.1:c.1188T>G	XP_011518606.1:p.Asn396Lys
XR_930886.1:n.1658T>G
NM_001318087.1:c.1320T>G	NP_001305016.1:p.Asn440Lys
NM_001318088.1:c.399T>G	NP_001305017.1:p.Asn133Lys
NM_001365135.1:c.1188T>G	NP_001352064.1:p.Asn396Lys
NR_027400.2:n.1333T>G
NR_134502.1:n.852T>G
XM_011520304.2:c.1188T>G	XP_011518606.1:p.Asn396Lys
XR_001747940.2:n.1485T>G
XR_002957158.1:n.1485T>G
NM_000543.5:c.1320T>G MANE Select	NP_000534.3:p.Asn440Lys
NM_001007593.3:c.1317T>G	NP_001007594.2:p.Asn439Lys
NM_001318087.2:c.1320T>G	NP_001305016.1:p.Asn440Lys
NM_001318088.2:c.399T>G	NP_001305017.1:p.Asn133Lys
NM_001365135.2:c.1188T>G	NP_001352064.1:p.Asn396Lys
NR_027400.3:n.1273T>G
NR_134502.2:n.792T>G