Canonical Allele Identifier: CA600188323

Gene: CLPB

Linked Data

• dbSNP Id: rs1284023346
• gnomAD v2: 11-72113954-A-G
• gnomAD v4: 11-72402910-A-G
• MyVariant Identifiers: chr11:g.72113954A>G (hg19) ; chr11:g.72402910A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72402910A>G , CM000673.2:g.72402910A>G	GRCh38
NC_000011.9:g.72113954A>G , CM000673.1:g.72113954A>G	GRCh37
NC_000011.8:g.71791602A>G	NCBI36
NG_042130.1:g.36775T>C
NG_042130.2:g.36775T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*142+56T>C	ENSP00000443822.2:n.*142+56T>C
ENST00000695924.1:n.613+56T>C
ENST00000695925.1:n.613+56T>C
ENST00000695926.1:n.613+56T>C
ENST00000294053.9:c.542+56T>C MANE Plus Clinical	ENSP00000294053.3:n.542+56T>C
ENST00000535477.6:c.417+56T>C	ENSP00000440423.2:n.417+56T>C
ENST00000538039.6:c.542+56T>C MANE Select	ENSP00000441518.1:n.542+56T>C
ENST00000543042.6:c.542+56T>C	ENSP00000439746.2:n.542+56T>C
ENST00000642288.1:c.29+56T>C	ENSP00000495167.1:n.29+56T>C
ENST00000646117.1:c.542+56T>C	ENSP00000495421.1:n.542+56T>C
ENST00000294053.7:c.542+56T>C	ENSP00000294053.3:n.542+56T>C
ENST00000340729.9:c.456-22526T>C	ENSP00000340385.5:n.456-22526T>C
ENST00000437826.6:c.407+56T>C	ENSP00000407296.2:n.407+56T>C
ENST00000445069.4:n.369+56T>C
ENST00000535477.5:c.542+56T>C	ENSP00000440423.1:n.542+56T>C
ENST00000535990.5:c.557+56T>C	ENSP00000443822.1:n.557+56T>C
ENST00000538039.5:c.542+56T>C	ENSP00000441518.1:n.542+56T>C
ENST00000539148.3:c.104+56T>C	ENSP00000445327.1:n.104+56T>C
ENST00000543042.5:c.29+56T>C	ENSP00000439746.1:n.29+56T>C
ENST00000544683.5:c.104+56T>C	ENSP00000442651.1:n.104+56T>C
NM_001258392.1:c.542+56T>C	NP_001245321.1:n.542+56T>C
NM_001258392.2:c.542+56T>C	NP_001245321.1:n.542+56T>C
NM_001258393.1:c.456-22526T>C	NP_001245322.1:n.456-22526T>C
NM_001258393.2:c.456-22526T>C	NP_001245322.1:n.456-22526T>C
NM_001258394.1:c.407+56T>C	NP_001245323.1:n.407+56T>C
NM_001258394.2:c.407+56T>C	NP_001245323.1:n.407+56T>C
NM_030813.4:c.542+56T>C	NP_110440.1:n.542+56T>C
NM_030813.5:c.542+56T>C	NP_110440.1:n.542+56T>C
XM_005274320.1:c.456-22526T>C	XP_005274377.1:n.456-22526T>C
XM_011545288.1:c.542+56T>C	XP_011543590.1:n.542+56T>C
XM_011545289.1:c.542+56T>C	XP_011543591.1:n.542+56T>C
XM_011545289.2:c.542+56T>C	XP_011543591.1:n.542+56T>C
NM_001258392.3:c.542+56T>C MANE Select	NP_001245321.1:n.542+56T>C
NM_001258393.3:c.456-22526T>C	NP_001245322.1:n.456-22526T>C
NM_030813.6:c.542+56T>C MANE Plus Clinical	NP_110440.1:n.542+56T>C
NM_001258394.3:c.407+56T>C	NP_001245323.1:n.407+56T>C