Canonical Allele Identifier: CA350627977

Gene: BCS1L

Linked Data

• MyVariant Identifiers: chr2:g.219526944T>C (hg19) ; chr2:g.218662221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218662221T>C , CM000664.2:g.218662221T>C	GRCh38
NC_000002.11:g.219526944T>C , CM000664.1:g.219526944T>C	GRCh37
NC_000002.10:g.219235188T>C	NCBI36
NG_008018.1:g.7566T>C , LRG_539:g.7566T>C
NG_033099.1:g.2320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359273.8:c.680T>C MANE Select	ENSP00000352219.3:p.Leu227Pro
ENST00000392111.7:c.680T>C	ENSP00000375959.2:p.Leu227Pro
ENST00000359273.7:c.680T>C	ENSP00000352219.3:p.Leu227Pro
ENST00000392109.5:c.680T>C	ENSP00000375957.1:p.Leu227Pro
ENST00000392110.6:c.680T>C	ENSP00000375958.2:p.Leu227Pro
ENST00000392111.6:c.680T>C	ENSP00000375959.2:p.Leu227Pro
ENST00000412366.5:c.680T>C	ENSP00000406494.1:p.Leu227Pro
ENST00000426649.5:c.29T>C
ENST00000431802.5:c.680T>C	ENSP00000413908.1:p.Leu227Pro
ENST00000436603.1:c.25T>C
ENST00000439945.5:c.680T>C	ENSP00000404999.1:p.Leu227Pro
ENST00000443791.5:c.320T>C	ENSP00000412729.1:p.Leu107Pro
ENST00000460579.5:n.128T>C
ENST00000465706.1:n.61T>C
ENST00000471576.5:n.677T>C
ENST00000477422.5:n.313T>C
NM_001079866.1:c.680T>C	NP_001073335.1:p.Leu227Pro
NM_001257342.1:c.680T>C	NP_001244271.1:p.Leu227Pro
NM_001257343.1:c.680T>C	NP_001244272.1:p.Leu227Pro
NM_001257344.1:c.680T>C , LRG_539t2:c.680T>C	NP_001244273.1:p.Leu227Pro
NM_004328.4:c.680T>C , LRG_539t1:c.680T>C	NP_004319.1:p.Leu227Pro
XM_005246747.3:c.680T>C	XP_005246804.1:p.Leu227Pro
XM_005246748.1:c.179T>C	XP_005246805.1:p.Leu60Pro
XM_005246749.3:c.179T>C	XP_005246806.1:p.Leu60Pro
XM_006712678.1:c.680T>C	XP_006712741.1:p.Leu227Pro
XM_011511587.1:c.680T>C	XP_011509889.1:p.Leu227Pro
XM_011511588.1:c.320T>C	XP_011509890.1:p.Leu107Pro
XR_427105.1:n.1622T>C
NM_001318836.1:c.320T>C	NP_001305765.1:p.Leu107Pro
NM_001320717.1:c.680T>C	NP_001307646.1:p.Leu227Pro
XM_005246748.3:c.179T>C	XP_005246805.1:p.Leu60Pro
XM_017004631.1:c.680T>C	XP_016860120.1:p.Leu227Pro
XM_017004632.1:c.680T>C	XP_016860121.1:p.Leu227Pro
XM_017004633.2:c.179T>C	XP_016860122.1:p.Leu60Pro
XM_017004634.2:c.179T>C	XP_016860123.1:p.Leu60Pro
XR_427105.3:n.1692T>C
NM_001079866.2:c.680T>C MANE Select	NP_001073335.1:p.Leu227Pro
NM_001257342.2:c.680T>C	NP_001244271.1:p.Leu227Pro
NM_001257343.2:c.680T>C	NP_001244272.1:p.Leu227Pro
NM_001257344.2:c.680T>C	NP_001244273.1:p.Leu227Pro
NM_001318836.2:c.320T>C	NP_001305765.1:p.Leu107Pro
NM_001320717.2:c.680T>C	NP_001307646.1:p.Leu227Pro
NM_001371443.1:c.680T>C	NP_001358372.1:p.Leu227Pro
NM_001371444.1:c.680T>C	NP_001358373.1:p.Leu227Pro
NM_001371446.1:c.680T>C	NP_001358375.1:p.Leu227Pro
NM_001371447.1:c.680T>C	NP_001358376.1:p.Leu227Pro
NM_001371448.1:c.680T>C	NP_001358377.1:p.Leu227Pro
NM_001371449.1:c.680T>C	NP_001358378.1:p.Leu227Pro
NM_001371450.1:c.680T>C	NP_001358379.1:p.Leu227Pro
NM_001371451.1:c.320T>C	NP_001358380.1:p.Leu107Pro
NM_001371452.1:c.179T>C	NP_001358381.1:p.Leu60Pro
NM_001371453.1:c.179T>C	NP_001358382.1:p.Leu60Pro
NM_001371454.1:c.179T>C	NP_001358383.1:p.Leu60Pro
NM_001371455.1:c.179T>C	NP_001358384.1:p.Leu60Pro
NM_001371456.1:c.179T>C	NP_001358385.1:p.Leu60Pro
NM_001374085.1:c.680T>C	NP_001361014.1:p.Leu227Pro
NM_001374086.1:c.179T>C	NP_001361015.1:p.Leu60Pro
NM_004328.5:c.680T>C	NP_004319.1:p.Leu227Pro
NR_163955.1:n.1692T>C