Canonical Allele Identifier: CA382628651

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193667-T-C
• MyVariant Identifiers: chr11:g.112064390T>C (hg19) ; chr11:g.112193667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193667T>C , CM000673.2:g.112193667T>C	GRCh38
NC_000011.9:g.112064390T>C , CM000673.1:g.112064390T>C	GRCh37
NC_000011.8:g.111569600T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.487T>C MANE Select	ENSP00000350314.5:p.Ser163Pro
ENST00000357685.9:c.487T>C	ENSP00000350314.5:p.Ser163Pro
ENST00000361053.8:c.487T>C	ENSP00000354338.4:p.Ser163Pro
ENST00000438022.5:c.385T>C	ENSP00000414843.1:p.Ser129Pro
ENST00000460924.6:n.579T>C
ENST00000494860.5:n.339T>C
ENST00000525987.5:n.830T>C
ENST00000526088.5:c.385T>C	ENSP00000436615.1:p.Ser129Pro
ENST00000527939.1:c.*129T>C	ENSP00000436956.1:n.*129T>C
ENST00000530677.1:c.194T>C
ENST00000531169.5:c.385T>C	ENSP00000437053.1:p.Ser129Pro
ENST00000532593.5:c.172T>C	ENSP00000431802.1:p.Ser58Pro
ENST00000532612.5:c.417T>C
ENST00000534122.5:n.1102T>C
ENST00000534550.5:c.*129T>C	ENSP00000434488.1:n.*129T>C
NM_001037290.2:c.385T>C	NP_001032367.2:p.Ser129Pro
NM_001256397.1:c.385T>C	NP_001243326.1:p.Ser129Pro
NM_001256398.1:c.487T>C	NP_001243327.1:p.Ser163Pro
NM_001256400.1:c.172T>C	NP_001243329.1:p.Ser58Pro
NM_031938.5:c.487T>C	NP_114144.4:p.Ser163Pro
NM_001037290.3:c.385T>C	NP_001032367.3:p.Ser129Pro
NM_001256397.2:c.385T>C	NP_001243326.2:p.Ser129Pro
NM_001256398.2:c.487T>C	NP_001243327.2:p.Ser163Pro
NM_001256400.2:c.172T>C	NP_001243329.2:p.Ser58Pro
NM_031938.7:c.487T>C MANE Select	NP_114144.5:p.Ser163Pro
NM_001037290.4:c.385T>C	NP_001032367.3:p.Ser129Pro
NM_001256397.3:c.385T>C	NP_001243326.2:p.Ser129Pro
NM_001256398.3:c.487T>C	NP_001243327.2:p.Ser163Pro
NM_001256400.3:c.172T>C	NP_001243329.2:p.Ser58Pro