Canonical Allele Identifier: CA65807478
Community Standard Title: NM_001079866.2(BCS1L):c.-85G>A
Gene: BCS1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218659708G>A , CM000664.2:g.218659708G>A GRCh38
NC_000002.11:g.219524431G>A , CM000664.1:g.219524431G>A GRCh37
NC_000002.10:g.219232675G>A NCBI36
NG_008018.1:g.5053G>A , LRG_539:g.5053G>A
NG_033099.1:g.4833C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001079866.2:c.-85G>A MANE Select NP_001073335.1:n.-85G>A
ENST00000359273.8:c.-85G>A MANE Select ENSP00000352219.3:n.-85G>A
NM_001079866.1:c.-85G>A NP_001073335.1:n.-85G>A
NM_001257342.1:c.-215G>A NP_001244271.1:n.-215G>A
NM_001257342.2:c.-215G>A NP_001244271.1:n.-215G>A
NM_001257343.1:c.-267G>A NP_001244272.1:n.-267G>A
NM_001257343.2:c.-267G>A NP_001244272.1:n.-267G>A
NM_001257344.1:c.-142G>A , LRG_539t2:c.-142G>A NP_001244273.1:n.-142G>A
NM_001257344.2:c.-142G>A NP_001244273.1:n.-142G>A
NM_001318836.1:c.-76G>A NP_001305765.1:n.-76G>A
NM_001318836.2:c.-76G>A NP_001305765.1:n.-76G>A
NM_001320717.1:c.-257G>A NP_001307646.1:n.-257G>A
NM_001320717.2:c.-257G>A NP_001307646.1:n.-257G>A
NM_001371443.1:c.-200G>A NP_001358372.1:n.-200G>A
NM_001371444.1:c.-470G>A NP_001358373.1:n.-470G>A
NM_001371446.1:c.-1090G>A NP_001358375.1:n.-1090G>A
NM_001371447.1:c.-67G>A NP_001358376.1:n.-67G>A
NM_001371448.1:c.-268G>A NP_001358377.1:n.-268G>A
NM_001371449.1:c.-382G>A NP_001358378.1:n.-382G>A
NM_001371450.1:c.-763G>A NP_001358379.1:n.-763G>A
NM_001371451.1:c.-1081G>A NP_001358380.1:n.-1081G>A
NM_001371452.1:c.-77G>A NP_001358381.1:n.-77G>A
NM_001371453.1:c.-1463G>A NP_001358382.1:n.-1463G>A
NM_001371454.1:c.-1239G>A NP_001358383.1:n.-1239G>A
NM_001371455.1:c.-561G>A NP_001358384.1:n.-561G>A
NM_001371456.1:c.-691G>A NP_001358385.1:n.-691G>A
NM_001374085.1:c.-1280G>A NP_001361014.1:n.-1280G>A
NM_001374086.1:c.-1756G>A NP_001361015.1:n.-1756G>A
NM_004328.4:c.-294G>A , LRG_539t1:c.-294G>A NP_004319.1:n.-294G>A
NM_004328.5:c.-294G>A NP_004319.1:n.-294G>A
NR_163955.1:n.26G>A
ENST00000359273.7:c.-85G>A ENSP00000352219.3:n.-85G>A
ENST00000392111.7:c.-294G>A ENSP00000375959.2:n.-294G>A
ENST00000428880.5:c.-165+535G>A ENSP00000391007.1:n.-165+535G>A
ENST00000430322.5:c.-50+535G>A ENSP00000398957.1:n.-50+535G>A
ENST00000443791.5:c.-76G>A ENSP00000412729.1:n.-76G>A
ENST00000456050.5:c.-50+185G>A ENSP00000395440.1:n.-50+185G>A
ENST00000490188.1:n.50G>A
XM_005246749.3:c.-77G>A XP_005246806.1:n.-77G>A
XM_011511588.1:c.-76G>A XP_011509890.1:n.-76G>A
XM_017004631.1:c.-470G>A XP_016860120.1:n.-470G>A
XM_017004632.1:c.-200G>A XP_016860121.1:n.-200G>A
XM_017004633.2:c.-1463G>A XP_016860122.1:n.-1463G>A
XR_427105.3:n.26G>A