Canonical Allele Identifier: CA350625515

Gene: BCS1L

Linked Data

• gnomAD v4: 2-218661112-C-T
• MyVariant Identifiers: chr2:g.219525835C>T (hg19) ; chr2:g.218661112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218661112C>T , CM000664.2:g.218661112C>T	GRCh38
NC_000002.11:g.219525835C>T , CM000664.1:g.219525835C>T	GRCh37
NC_000002.10:g.219234079C>T	NCBI36
NG_008018.1:g.6457C>T , LRG_539:g.6457C>T
NG_033099.1:g.3429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359273.8:c.125C>T MANE Select	ENSP00000352219.3:p.Ala42Val
ENST00000392111.7:c.125C>T	ENSP00000375959.2:p.Ala42Val
ENST00000643945.1:c.125C>T	ENSP00000496514.1:p.Ala42Val
ENST00000359273.7:c.125C>T	ENSP00000352219.3:p.Ala42Val
ENST00000392109.5:c.125C>T	ENSP00000375957.1:p.Ala42Val
ENST00000392110.6:c.125C>T	ENSP00000375958.2:p.Ala42Val
ENST00000392111.6:c.125C>T	ENSP00000375959.2:p.Ala42Val
ENST00000412366.5:c.125C>T	ENSP00000406494.1:p.Ala42Val
ENST00000423377.5:c.125C>T	ENSP00000397293.1:p.Ala42Val
ENST00000428880.5:c.125C>T	ENSP00000391007.1:p.Ala42Val
ENST00000430322.5:c.125C>T	ENSP00000398957.1:p.Ala42Val
ENST00000431802.5:c.125C>T	ENSP00000413908.1:p.Ala42Val
ENST00000439945.5:c.125C>T	ENSP00000404999.1:p.Ala42Val
ENST00000443791.5:c.-40-294C>T	ENSP00000412729.1:n.-40-294C>T
ENST00000456050.5:c.125C>T	ENSP00000395440.1:p.Ala42Val
ENST00000471576.5:n.49C>T
ENST00000493376.1:n.246C>T
NM_001079866.1:c.125C>T	NP_001073335.1:p.Ala42Val
NM_001257342.1:c.125C>T	NP_001244271.1:p.Ala42Val
NM_001257343.1:c.125C>T	NP_001244272.1:p.Ala42Val
NM_001257344.1:c.125C>T , LRG_539t2:c.125C>T	NP_001244273.1:p.Ala42Val
NM_004328.4:c.125C>T , LRG_539t1:c.125C>T	NP_004319.1:p.Ala42Val
XM_005246747.3:c.125C>T	XP_005246804.1:p.Ala42Val
XM_005246749.3:c.-41-647C>T	XP_005246806.1:n.-41-647C>T
XM_006712678.1:c.125C>T	XP_006712741.1:p.Ala42Val
XM_011511587.1:c.125C>T	XP_011509889.1:p.Ala42Val
XM_011511588.1:c.-40-294C>T	XP_011509890.1:n.-40-294C>T
XR_427105.1:n.1067C>T
NM_001318836.1:c.-40-294C>T	NP_001305765.1:n.-40-294C>T
NM_001320717.1:c.125C>T	NP_001307646.1:p.Ala42Val
XM_005246748.3:c.-352C>T	XP_005246805.1:n.-352C>T
XM_017004631.1:c.125C>T	XP_016860120.1:p.Ala42Val
XM_017004632.1:c.125C>T	XP_016860121.1:p.Ala42Val
XM_017004633.2:c.-352C>T	XP_016860122.1:n.-352C>T
XM_017004634.2:c.-352C>T	XP_016860123.1:n.-352C>T
XR_427105.3:n.1137C>T
NM_001079866.2:c.125C>T MANE Select	NP_001073335.1:p.Ala42Val
NM_001257342.2:c.125C>T	NP_001244271.1:p.Ala42Val
NM_001257343.2:c.125C>T	NP_001244272.1:p.Ala42Val
NM_001257344.2:c.125C>T	NP_001244273.1:p.Ala42Val
NM_001318836.2:c.-40-294C>T	NP_001305765.1:n.-40-294C>T
NM_001320717.2:c.125C>T	NP_001307646.1:p.Ala42Val
NM_001371443.1:c.125C>T	NP_001358372.1:p.Ala42Val
NM_001371444.1:c.125C>T	NP_001358373.1:p.Ala42Val
NM_001371446.1:c.125C>T	NP_001358375.1:p.Ala42Val
NM_001371447.1:c.125C>T	NP_001358376.1:p.Ala42Val
NM_001371448.1:c.125C>T	NP_001358377.1:p.Ala42Val
NM_001371449.1:c.125C>T	NP_001358378.1:p.Ala42Val
NM_001371450.1:c.125C>T	NP_001358379.1:p.Ala42Val
NM_001371451.1:c.-40-294C>T	NP_001358380.1:n.-40-294C>T
NM_001371452.1:c.-41-647C>T	NP_001358381.1:n.-41-647C>T
NM_001371453.1:c.-352C>T	NP_001358382.1:n.-352C>T
NM_001371454.1:c.-352C>T	NP_001358383.1:n.-352C>T
NM_001371455.1:c.-352C>T	NP_001358384.1:n.-352C>T
NM_001371456.1:c.-352C>T	NP_001358385.1:n.-352C>T
NM_001374085.1:c.125C>T	NP_001361014.1:p.Ala42Val
NM_001374086.1:c.-352C>T	NP_001361015.1:n.-352C>T
NM_004328.5:c.125C>T	NP_004319.1:p.Ala42Val
NR_163955.1:n.1137C>T