Canonical Allele Identifier: CA379376069

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415475G>T (hg19) ; chr11:g.6394245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394245G>T , CM000673.2:g.6394245G>T	GRCh38
NC_000011.9:g.6415475G>T , CM000673.1:g.6415475G>T	GRCh37
NC_000011.8:g.6372051G>T	NCBI36
NG_011780.1:g.8821G>T
NG_029615.1:g.30170C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1534G>T MANE Select	ENSP00000340409.4:p.Val512Leu
ENST00000342245.8:c.1534G>T	ENSP00000340409.4:p.Val512Leu
ENST00000526280.1:c.591G>T
ENST00000527275.5:c.1531G>T	ENSP00000435350.1:p.Val511Leu
ENST00000531303.5:c.*385G>T	ENSP00000432625.1:n.*385G>T
ENST00000531336.1:n.522G>T
ENST00000533123.5:c.*261G>T	ENSP00000435950.1:n.*261G>T
ENST00000534405.5:c.*365G>T	ENSP00000434353.1:n.*365G>T
NM_000543.4:c.1534G>T	NP_000534.3:p.Val512Leu
NM_001007593.2:c.1531G>T	NP_001007594.2:p.Val511Leu
XM_005253075.3:c.*27G>T	XP_005253132.1:n.*27G>T
XM_011520303.1:c.1402G>T	XP_011518605.1:p.Val468Leu
XM_011520304.1:c.*27G>T	XP_011518606.1:n.*27G>T
NM_001318087.1:c.*27G>T	NP_001305016.1:n.*27G>T
NM_001318088.1:c.613G>T	NP_001305017.1:p.Val205Leu
NM_001365135.1:c.1402G>T	NP_001352064.1:p.Val468Leu
NR_027400.2:n.1547G>T
NR_134502.1:n.1086G>T
XM_011520304.2:c.*27G>T	XP_011518606.1:n.*27G>T
XR_001747940.2:n.1719G>T
XR_002957158.1:n.1901G>T
NM_000543.5:c.1534G>T MANE Select	NP_000534.3:p.Val512Leu
NM_001007593.3:c.1531G>T	NP_001007594.2:p.Val511Leu
NM_001318087.2:c.*27G>T	NP_001305016.1:n.*27G>T
NM_001318088.2:c.613G>T	NP_001305017.1:p.Val205Leu
NM_001365135.2:c.1402G>T	NP_001352064.1:p.Val468Leu
NR_027400.3:n.1487G>T
NR_134502.2:n.1026G>T