Canonical Allele Identifier: CA382628407

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193557-T-C
• MyVariant Identifiers: chr11:g.112064280T>C (hg19) ; chr11:g.112193557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193557T>C , CM000673.2:g.112193557T>C	GRCh38
NC_000011.9:g.112064280T>C , CM000673.1:g.112064280T>C	GRCh37
NC_000011.8:g.111569490T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.377T>C MANE Select	ENSP00000350314.5:p.Leu126Pro
ENST00000357685.9:c.377T>C	ENSP00000350314.5:p.Leu126Pro
ENST00000361053.8:c.377T>C	ENSP00000354338.4:p.Leu126Pro
ENST00000438022.5:c.275T>C	ENSP00000414843.1:p.Leu92Pro
ENST00000460924.6:n.469T>C
ENST00000494860.5:n.229T>C
ENST00000525468.1:n.366T>C
ENST00000525987.5:n.720T>C
ENST00000526088.5:c.275T>C	ENSP00000436615.1:p.Leu92Pro
ENST00000527939.1:c.*19T>C	ENSP00000436956.1:n.*19T>C
ENST00000530677.1:c.84T>C
ENST00000531169.5:c.275T>C	ENSP00000437053.1:p.Leu92Pro
ENST00000532593.5:c.62T>C	ENSP00000431802.1:p.Leu21Pro
ENST00000532612.5:c.307T>C
ENST00000532699.1:c.*139T>C	ENSP00000456434.1:n.*139T>C
ENST00000534122.5:n.992T>C
ENST00000534550.5:c.*19T>C	ENSP00000434488.1:n.*19T>C
NM_001037290.2:c.275T>C	NP_001032367.2:p.Leu92Pro
NM_001256397.1:c.275T>C	NP_001243326.1:p.Leu92Pro
NM_001256398.1:c.377T>C	NP_001243327.1:p.Leu126Pro
NM_001256400.1:c.62T>C	NP_001243329.1:p.Leu21Pro
NM_031938.5:c.377T>C	NP_114144.4:p.Leu126Pro
NM_001037290.3:c.275T>C	NP_001032367.3:p.Leu92Pro
NM_001256397.2:c.275T>C	NP_001243326.2:p.Leu92Pro
NM_001256398.2:c.377T>C	NP_001243327.2:p.Leu126Pro
NM_001256400.2:c.62T>C	NP_001243329.2:p.Leu21Pro
NM_031938.7:c.377T>C MANE Select	NP_114144.5:p.Leu126Pro
NM_001037290.4:c.275T>C	NP_001032367.3:p.Leu92Pro
NM_001256397.3:c.275T>C	NP_001243326.2:p.Leu92Pro
NM_001256398.3:c.377T>C	NP_001243327.2:p.Leu126Pro
NM_001256400.3:c.62T>C	NP_001243329.2:p.Leu21Pro