Canonical Allele Identifier: CA2861859
Community Standard Title: NM_148894.3(BOD1L1):c.3149G>A (p.Ser1050Asn)
Gene: BOD1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.13603751C>T , CM000666.2:g.13603751C>T GRCh38
NC_000004.11:g.13605375C>T , CM000666.1:g.13605375C>T GRCh37
NC_000004.10:g.13214473C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_148894.3:c.3149G>A MANE Select NP_683692.2:p.Ser1050Asn
ENST00000040738.10:c.3149G>A MANE Select ENSP00000040738.5:p.Ser1050Asn
NM_148894.2:c.3149G>A NP_683692.2:p.Ser1050Asn
ENST00000040738.9:c.3149G>A ENSP00000040738.5:p.Ser1050Asn
ENST00000507943.2:c.3149G>A ENSP00000425492.2:p.Ser1050Asn
XM_005248150.2:c.3149G>A XP_005248207.1:p.Ser1050Asn
XM_005248150.3:c.3149G>A XP_005248207.1:p.Ser1050Asn
XM_005248151.2:c.3149G>A XP_005248208.1:p.Ser1050Asn
XM_005248151.3:c.3149G>A XP_005248208.1:p.Ser1050Asn
XM_006713958.2:c.3149G>A XP_006714021.1:p.Ser1050Asn
XM_006713958.3:c.3149G>A XP_006714021.1:p.Ser1050Asn
XM_011513827.1:c.3149G>A XP_011512129.1:p.Ser1050Asn
XM_011513827.2:c.3149G>A XP_011512129.1:p.Ser1050Asn
XM_011513828.1:c.3149G>A XP_011512130.1:p.Ser1050Asn
XM_011513829.1:c.3149G>A XP_011512131.1:p.Ser1050Asn
XM_011513829.2:c.3149G>A XP_011512131.1:p.Ser1050Asn
XM_011513830.1:c.2546G>A XP_011512132.1:p.Ser849Asn
XM_011513830.3:c.2546G>A XP_011512132.1:p.Ser849Asn
XM_017008009.1:c.3149G>A XP_016863498.1:p.Ser1050Asn
XM_017008010.1:c.3149G>A XP_016863499.1:p.Ser1050Asn