Canonical Allele Identifier: CA15921684
Gene: OSBPL1A HGNC NCBI

Linked Data

dbSNP Id: rs7227401
gnomAD v2: 18-21938658-T-G
gnomAD v3: 18-24358694-T-G
gnomAD v4: 18-24358694-T-G
MyVariant Identifiers: chr18:g.21938658T>G (hg19) chr18:g.24358694T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24358694T>G , CM000680.2:g.24358694T>G GRCh38
NC_000018.9:g.21938658T>G , CM000680.1:g.21938658T>G GRCh37
NC_000018.8:g.20192656T>G NCBI36
NG_029432.1:g.44176A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319481.8:c.282+8198A>C MANE Select ENSP00000320291.3:n.282+8198A>C
ENST00000319481.7:c.282+8198A>C ENSP00000320291.3:n.282+8198A>C
ENST00000399441.4:c.283-183A>C ENSP00000382370.4:n.283-183A>C
ENST00000578091.5:c.127+9673A>C ENSP00000462887.1:n.127+9673A>C
ENST00000579764.5:n.258-10856A>C
ENST00000579851.5:c.122-17036A>C ENSP00000463452.1:n.122-17036A>C
ENST00000582350.5:n.414+8198A>C
ENST00000582645.5:c.*46+8198A>C ENSP00000462477.1:n.*46+8198A>C
NM_080597.3:c.282+8198A>C NP_542164.2:n.282+8198A>C
XM_006722380.2:c.207+9593A>C XP_006722443.1:n.207+9593A>C
XM_006722381.2:c.282+8198A>C XP_006722444.1:n.282+8198A>C
XM_006722382.2:c.282+8198A>C XP_006722445.1:n.282+8198A>C
XM_006722383.2:c.282+8198A>C XP_006722446.1:n.282+8198A>C
XM_011525800.1:c.282+8198A>C XP_011524102.1:n.282+8198A>C
XR_935193.1:n.512+8198A>C
XR_935289.1:n.369-1298T>G
XR_935290.1:n.368+22584T>G
XM_006722380.3:c.207+9593A>C XP_006722443.1:n.207+9593A>C
XM_006722382.4:c.282+8198A>C XP_006722445.1:n.282+8198A>C
XM_017025530.1:c.336+8198A>C XP_016881019.1:n.336+8198A>C
XM_017025531.2:c.282+8198A>C XP_016881020.1:n.282+8198A>C
XM_017025532.1:c.282+8198A>C XP_016881021.1:n.282+8198A>C
XR_001753139.2:n.284+8198A>C
XR_002958162.1:n.284+8198A>C
NM_080597.4:c.282+8198A>C MANE Select NP_542164.2:n.282+8198A>C
Search 100 bp 5'
Search 100 bp 3'