Canonical Allele Identifier: CA5852483
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs141685473
gnomAD v2: 11-6411934-G-C
gnomAD v4: 11-6390704-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390704G>C , CM000673.2:g.6390704G>C GRCh38
NC_000011.9:g.6411934G>C , CM000673.1:g.6411934G>C GRCh37
NC_000011.8:g.6368510G>C NCBI36
NG_011780.1:g.5280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.106G>C MANE Select ENSP00000340409.4:p.Val36Leu
ENST00000342245.8:c.106G>C ENSP00000340409.4:p.Val36Leu
ENST00000527275.5:c.106G>C ENSP00000435350.1:p.Val36Leu
ENST00000530395.1:c.-96+65G>C ENSP00000431479.1:n.-96+65G>C
ENST00000531303.5:c.106G>C ENSP00000432625.1:p.Val36Leu
ENST00000533123.5:c.106G>C ENSP00000435950.1:p.Val36Leu
ENST00000533196.1:n.265G>C
ENST00000534405.5:c.106G>C ENSP00000434353.1:p.Val36Leu
NM_000543.4:c.106G>C NP_000534.3:p.Val36Leu
NM_001007593.2:c.106G>C NP_001007594.2:p.Val36Leu
XM_005253075.3:c.106G>C XP_005253132.1:p.Val36Leu
XM_011520303.1:c.106G>C XP_011518605.1:p.Val36Leu
XM_011520304.1:c.106G>C XP_011518606.1:p.Val36Leu
XR_930886.1:n.404G>C
NM_001318087.1:c.106G>C NP_001305016.1:p.Val36Leu
NM_001318088.1:c.-856G>C NP_001305017.1:n.-856G>C
NM_001365135.1:c.106G>C NP_001352064.1:p.Val36Leu
NR_027400.2:n.291G>C
NR_134502.1:n.291G>C
XM_011520304.2:c.106G>C XP_011518606.1:p.Val36Leu
XR_001747940.2:n.231G>C
XR_002957158.1:n.231G>C
NM_000543.5:c.106G>C MANE Select NP_000534.3:p.Val36Leu
NM_001007593.3:c.106G>C NP_001007594.2:p.Val36Leu
NM_001318087.2:c.106G>C NP_001305016.1:p.Val36Leu
NM_001318088.2:c.-856G>C NP_001305017.1:n.-856G>C
NM_001365135.2:c.106G>C NP_001352064.1:p.Val36Leu
NR_027400.3:n.231G>C
NR_134502.2:n.231G>C