Canonical Allele Identifier: CA382628680

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064403T>A (hg19) ; chr11:g.112193680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193680T>A , CM000673.2:g.112193680T>A	GRCh38
NC_000011.9:g.112064403T>A , CM000673.1:g.112064403T>A	GRCh37
NC_000011.8:g.111569613T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.500T>A MANE Select	ENSP00000350314.5:p.Leu167Gln
ENST00000357685.9:c.500T>A	ENSP00000350314.5:p.Leu167Gln
ENST00000361053.8:c.500T>A	ENSP00000354338.4:p.Leu167Gln
ENST00000438022.5:c.398T>A	ENSP00000414843.1:p.Leu133Gln
ENST00000460924.6:n.592T>A
ENST00000494860.5:n.352T>A
ENST00000525987.5:n.843T>A
ENST00000526088.5:c.398T>A	ENSP00000436615.1:p.Leu133Gln
ENST00000527939.1:c.*142T>A	ENSP00000436956.1:n.*142T>A
ENST00000530677.1:c.207T>A
ENST00000531169.5:c.398T>A	ENSP00000437053.1:p.Leu133Gln
ENST00000532593.5:c.185T>A	ENSP00000431802.1:p.Leu62Gln
ENST00000532612.5:c.430T>A
ENST00000534122.5:n.1115T>A
ENST00000534550.5:c.*142T>A	ENSP00000434488.1:n.*142T>A
NM_001037290.2:c.398T>A	NP_001032367.2:p.Leu133Gln
NM_001256397.1:c.398T>A	NP_001243326.1:p.Leu133Gln
NM_001256398.1:c.500T>A	NP_001243327.1:p.Leu167Gln
NM_001256400.1:c.185T>A	NP_001243329.1:p.Leu62Gln
NM_031938.5:c.500T>A	NP_114144.4:p.Leu167Gln
NM_001037290.3:c.398T>A	NP_001032367.3:p.Leu133Gln
NM_001256397.2:c.398T>A	NP_001243326.2:p.Leu133Gln
NM_001256398.2:c.500T>A	NP_001243327.2:p.Leu167Gln
NM_001256400.2:c.185T>A	NP_001243329.2:p.Leu62Gln
NM_031938.7:c.500T>A MANE Select	NP_114144.5:p.Leu167Gln
NM_001037290.4:c.398T>A	NP_001032367.3:p.Leu133Gln
NM_001256397.3:c.398T>A	NP_001243326.2:p.Leu133Gln
NM_001256398.3:c.500T>A	NP_001243327.2:p.Leu167Gln
NM_001256400.3:c.185T>A	NP_001243329.2:p.Leu62Gln