Canonical Allele Identifier: CA787669630
Gene: BOD1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1210742987
gnomAD v3: 4-13596271-C-T
gnomAD v4: 4-13596271-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.13596271C>T , CM000666.2:g.13596271C>T GRCh38
NC_000004.11:g.13597895C>T , CM000666.1:g.13597895C>T GRCh37
NC_000004.10:g.13206993C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000507943.2:c.8020-327G>A ENSP00000425492.2:n.8020-327G>A
ENST00000040738.10:c.8020-327G>A MANE Select ENSP00000040738.5:n.8020-327G>A
ENST00000040738.9:c.8020-327G>A ENSP00000040738.5:n.8020-327G>A
NM_148894.2:c.8020-327G>A NP_683692.2:n.8020-327G>A
XM_005248150.2:c.8020-327G>A XP_005248207.1:n.8020-327G>A
XM_005248151.2:c.8020-327G>A XP_005248208.1:n.8020-327G>A
XM_006713958.2:c.8020-327G>A XP_006714021.1:n.8020-327G>A
XM_011513827.1:c.8020-327G>A XP_011512129.1:n.8020-327G>A
XM_011513828.1:c.8020-327G>A XP_011512130.1:n.8020-327G>A
XM_011513829.1:c.8020-327G>A XP_011512131.1:n.8020-327G>A
XM_011513830.1:c.7417-327G>A XP_011512132.1:n.7417-327G>A
XM_005248150.3:c.8020-327G>A XP_005248207.1:n.8020-327G>A
XM_005248151.3:c.8020-327G>A XP_005248208.1:n.8020-327G>A
XM_006713958.3:c.8020-327G>A XP_006714021.1:n.8020-327G>A
XM_011513827.2:c.8020-327G>A XP_011512129.1:n.8020-327G>A
XM_011513829.2:c.8020-327G>A XP_011512131.1:n.8020-327G>A
XM_011513830.3:c.7417-327G>A XP_011512132.1:n.7417-327G>A
XM_017008009.1:c.8020-327G>A XP_016863498.1:n.8020-327G>A
XM_017008010.1:c.8020-327G>A XP_016863499.1:n.8020-327G>A
NM_148894.3:c.8020-327G>A MANE Select NP_683692.2:n.8020-327G>A