Canonical Allele Identifier: CA2663151109

Gene: BCS1L

Linked Data

• gnomAD v4: 2-218660958-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218660958G>A , CM000664.2:g.218660958G>A	GRCh38
NC_000002.11:g.219525681G>A , CM000664.1:g.219525681G>A	GRCh37
NC_000002.10:g.219233925G>A	NCBI36
NG_008018.1:g.6303G>A , LRG_539:g.6303G>A
NG_033099.1:g.3583C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359273.8:c.-30G>A MANE Select	ENSP00000352219.3:n.-30G>A
ENST00000392111.7:c.-30G>A	ENSP00000375959.2:n.-30G>A
ENST00000643945.1:c.-30G>A	ENSP00000496514.1:n.-30G>A
ENST00000359273.7:c.-30G>A	ENSP00000352219.3:n.-30G>A
ENST00000392109.5:c.-30G>A	ENSP00000375957.1:n.-30G>A
ENST00000392110.6:c.-30G>A	ENSP00000375958.2:n.-30G>A
ENST00000392111.6:c.-30G>A	ENSP00000375959.2:n.-30G>A
ENST00000412366.5:c.-30G>A	ENSP00000406494.1:n.-30G>A
ENST00000423377.5:c.-30G>A	ENSP00000397293.1:n.-30G>A
ENST00000428880.5:c.-30G>A	ENSP00000391007.1:n.-30G>A
ENST00000430322.5:c.-30G>A	ENSP00000398957.1:n.-30G>A
ENST00000431802.5:c.-30G>A	ENSP00000413908.1:n.-30G>A
ENST00000439945.5:c.-30G>A	ENSP00000404999.1:n.-30G>A
ENST00000443791.5:c.-40-448G>A	ENSP00000412729.1:n.-40-448G>A
ENST00000456050.5:c.-30G>A	ENSP00000395440.1:n.-30G>A
ENST00000493376.1:n.92G>A
NM_001079866.1:c.-30G>A	NP_001073335.1:n.-30G>A
NM_001257342.1:c.-30G>A	NP_001244271.1:n.-30G>A
NM_001257343.1:c.-30G>A	NP_001244272.1:n.-30G>A
NM_001257344.1:c.-30G>A , LRG_539t2:c.-30G>A	NP_001244273.1:n.-30G>A
NM_004328.4:c.-30G>A , LRG_539t1:c.-30G>A	NP_004319.1:n.-30G>A
XM_005246747.3:c.-30G>A	XP_005246804.1:n.-30G>A
XM_005246749.3:c.-41-801G>A	XP_005246806.1:n.-41-801G>A
XM_006712678.1:c.-30G>A	XP_006712741.1:n.-30G>A
XM_011511587.1:c.-30G>A	XP_011509889.1:n.-30G>A
XM_011511588.1:c.-40-448G>A	XP_011509890.1:n.-40-448G>A
XR_427105.1:n.913G>A
NM_001318836.1:c.-40-448G>A	NP_001305765.1:n.-40-448G>A
NM_001320717.1:c.-30G>A	NP_001307646.1:n.-30G>A
XM_005246748.3:c.-506G>A	XP_005246805.1:n.-506G>A
XM_017004631.1:c.-30G>A	XP_016860120.1:n.-30G>A
XM_017004632.1:c.-30G>A	XP_016860121.1:n.-30G>A
XM_017004633.2:c.-506G>A	XP_016860122.1:n.-506G>A
XM_017004634.2:c.-506G>A	XP_016860123.1:n.-506G>A
XR_427105.3:n.983G>A
NM_001079866.2:c.-30G>A MANE Select	NP_001073335.1:n.-30G>A
NM_001257342.2:c.-30G>A	NP_001244271.1:n.-30G>A
NM_001257343.2:c.-30G>A	NP_001244272.1:n.-30G>A
NM_001257344.2:c.-30G>A	NP_001244273.1:n.-30G>A
NM_001318836.2:c.-40-448G>A	NP_001305765.1:n.-40-448G>A
NM_001320717.2:c.-30G>A	NP_001307646.1:n.-30G>A
NM_001371443.1:c.-30G>A	NP_001358372.1:n.-30G>A
NM_001371444.1:c.-30G>A	NP_001358373.1:n.-30G>A
NM_001371446.1:c.-30G>A	NP_001358375.1:n.-30G>A
NM_001371447.1:c.-30G>A	NP_001358376.1:n.-30G>A
NM_001371448.1:c.-30G>A	NP_001358377.1:n.-30G>A
NM_001371449.1:c.-30G>A	NP_001358378.1:n.-30G>A
NM_001371450.1:c.-30G>A	NP_001358379.1:n.-30G>A
NM_001371451.1:c.-41+210G>A	NP_001358380.1:n.-41+210G>A
NM_001371452.1:c.-41-801G>A	NP_001358381.1:n.-41-801G>A
NM_001371453.1:c.-506G>A	NP_001358382.1:n.-506G>A
NM_001371454.1:c.-506G>A	NP_001358383.1:n.-506G>A
NM_001371455.1:c.-506G>A	NP_001358384.1:n.-506G>A
NM_001371456.1:c.-506G>A	NP_001358385.1:n.-506G>A
NM_001374085.1:c.-30G>A	NP_001361014.1:n.-30G>A
NM_001374086.1:c.-506G>A	NP_001361015.1:n.-506G>A
NM_004328.5:c.-30G>A	NP_004319.1:n.-30G>A
NR_163955.1:n.983G>A