Canonical Allele Identifier: CA271390065

Linked Data

dbSNP Id: rs530404138

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58440203A>G , CM000677.2:g.58440203A>G GRCh38
NC_000015.9:g.58732402A>G , CM000677.1:g.58732402A>G GRCh37
NC_000015.8:g.56519694A>G NCBI36
NG_011465.1:g.13228A>G
NG_011465.2:g.13228A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299022.10:c.88+8083A>G (LIPC) MANE Select ENSP00000299022.5:n.88+8083A>G
ENST00000299022.9:c.88+8083A>G (LIPC) ENSP00000299022.5:n.88+8083A>G
ENST00000356113.10:c.88+8083A>G (LIPC) ENSP00000348425.6:n.88+8083A>G
ENST00000414170.7:c.88+8083A>G (LIPC) ENSP00000395569.3:n.88+8083A>G
ENST00000433326.2:c.88+8083A>G (LIPC) ENSP00000395002.2:n.88+8083A>G
ENST00000558239.5:c.-306-20098T>C (ALDH1A2) ENSP00000453292.1:n.-306-20098T>C
ENST00000559845.5:n.130+8083A>G (LIPC)
ENST00000560863.5:n.281-20098T>C (ALDH1A2)
NM_000236.2:c.88+8083A>G (LIPC) NP_000227.2:n.88+8083A>G
NR_120338.1:n.209-3291T>C (LIPC-AS1)
XM_005254372.1:c.88+8083A>G (LIPC) XP_005254429.1:n.88+8083A>G
XM_011521551.1:c.88+8083A>G (LIPC) XP_011519853.1:n.88+8083A>G
XM_024449916.1:c.88+8083A>G (LIPC) XP_024305684.1:n.88+8083A>G
XM_024449917.1:c.88+8083A>G (LIPC) XP_024305685.1:n.88+8083A>G
NM_000236.3:c.88+8083A>G (LIPC) MANE Select NP_000227.2:n.88+8083A>G