Canonical Allele Identifier: CA16040864
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 370247
dbSNP Id: rs1057516346

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218662680G>T , CM000664.2:g.218662680G>T GRCh38
NC_000002.11:g.219527403G>T , CM000664.1:g.219527403G>T GRCh37
NC_000002.10:g.219235647G>T NCBI36
NG_008018.1:g.8025G>T , LRG_539:g.8025G>T
NG_033099.1:g.1861C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000359273.8:c.889+1G>T MANE Select ENSP00000352219.3:n.889+1G>T
ENST00000392111.7:c.889+1G>T ENSP00000375959.2:n.889+1G>T
ENST00000359273.7:c.889+1G>T ENSP00000352219.3:n.889+1G>T
ENST00000392109.5:c.889+1G>T ENSP00000375957.1:n.889+1G>T
ENST00000392110.6:c.889+1G>T ENSP00000375958.2:n.889+1G>T
ENST00000392111.6:c.889+1G>T ENSP00000375959.2:n.889+1G>T
ENST00000412366.5:c.889+1G>T ENSP00000406494.1:n.889+1G>T
ENST00000426649.5:n.233+1G>T
ENST00000431802.5:c.889+1G>T ENSP00000413908.1:n.889+1G>T
ENST00000436603.1:n.234+1G>T
ENST00000439945.5:c.889+1G>T ENSP00000404999.1:n.889+1G>T
ENST00000460579.5:n.586+1G>T
ENST00000465706.1:n.101-203G>T
ENST00000477422.5:n.517+1G>T
NM_001079866.1:c.889+1G>T NP_001073335.1:n.889+1G>T
NM_001257342.1:c.889+1G>T NP_001244271.1:n.889+1G>T
NM_001257343.1:c.889+1G>T NP_001244272.1:n.889+1G>T
NM_001257344.1:c.889+1G>T , LRG_539t2:c.889+1G>T NP_001244273.1:n.889+1G>T
NM_004328.4:c.889+1G>T , LRG_539t1:c.889+1G>T NP_004319.1:n.889+1G>T
XM_005246747.3:c.889+1G>T XP_005246804.1:n.889+1G>T
XM_005246748.1:c.388+1G>T XP_005246805.1:n.388+1G>T
XM_005246749.3:c.388+1G>T XP_005246806.1:n.388+1G>T
XM_006712678.1:c.889+1G>T XP_006712741.1:n.889+1G>T
XM_011511587.1:c.889+1G>T XP_011509889.1:n.889+1G>T
XM_011511588.1:c.529+1G>T XP_011509890.1:n.529+1G>T
XR_427105.1:n.1826+1G>T
NM_001318836.1:c.529+1G>T NP_001305765.1:n.529+1G>T
NM_001320717.1:c.889+1G>T NP_001307646.1:n.889+1G>T
XM_005246748.3:c.388+1G>T XP_005246805.1:n.388+1G>T
XM_017004631.1:c.889+1G>T XP_016860120.1:n.889+1G>T
XM_017004632.1:c.889+1G>T XP_016860121.1:n.889+1G>T
XM_017004633.2:c.388+1G>T XP_016860122.1:n.388+1G>T
XM_017004634.2:c.388+1G>T XP_016860123.1:n.388+1G>T
XR_427105.3:n.1896+1G>T
NM_001079866.2:c.889+1G>T MANE Select NP_001073335.1:n.889+1G>T
NM_001257342.2:c.889+1G>T NP_001244271.1:n.889+1G>T
NM_001257343.2:c.889+1G>T NP_001244272.1:n.889+1G>T
NM_001257344.2:c.889+1G>T NP_001244273.1:n.889+1G>T
NM_001318836.2:c.529+1G>T NP_001305765.1:n.529+1G>T
NM_001320717.2:c.889+1G>T NP_001307646.1:n.889+1G>T
NM_001371443.1:c.889+1G>T NP_001358372.1:n.889+1G>T
NM_001371444.1:c.889+1G>T NP_001358373.1:n.889+1G>T
NM_001371446.1:c.889+1G>T NP_001358375.1:n.889+1G>T
NM_001371447.1:c.889+1G>T NP_001358376.1:n.889+1G>T
NM_001371448.1:c.889+1G>T NP_001358377.1:n.889+1G>T
NM_001371449.1:c.889+1G>T NP_001358378.1:n.889+1G>T
NM_001371450.1:c.889+1G>T NP_001358379.1:n.889+1G>T
NM_001371451.1:c.529+1G>T NP_001358380.1:n.529+1G>T
NM_001371452.1:c.388+1G>T NP_001358381.1:n.388+1G>T
NM_001371453.1:c.388+1G>T NP_001358382.1:n.388+1G>T
NM_001371454.1:c.388+1G>T NP_001358383.1:n.388+1G>T
NM_001371455.1:c.388+1G>T NP_001358384.1:n.388+1G>T
NM_001371456.1:c.388+1G>T NP_001358385.1:n.388+1G>T
NM_001374085.1:c.889+1G>T NP_001361014.1:n.889+1G>T
NM_001374086.1:c.388+1G>T NP_001361015.1:n.388+1G>T
NM_004328.5:c.889+1G>T NP_004319.1:n.889+1G>T
NR_163955.1:n.1896+1G>T