Canonical Allele Identifier: CA381964591

Gene: CLPB

Linked Data

• MyVariant Identifiers: chr11:g.72114041G>A (hg19) ; chr11:g.72402997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72402997G>A , CM000673.2:g.72402997G>A	GRCh38
NC_000011.9:g.72114041G>A , CM000673.1:g.72114041G>A	GRCh37
NC_000011.8:g.71791689G>A	NCBI36
NG_042130.1:g.36688C>T
NG_042130.2:g.36688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*111C>T	ENSP00000443822.2:n.*111C>T
ENST00000695924.1:n.582C>T
ENST00000695925.1:n.582C>T
ENST00000695926.1:n.582C>T
ENST00000294053.9:c.511C>T MANE Plus Clinical	ENSP00000294053.3:p.Leu171Phe
ENST00000535477.6:c.386C>T	ENSP00000440423.2:p.Thr129Ile
ENST00000538039.6:c.511C>T MANE Select	ENSP00000441518.1:p.Leu171Phe
ENST00000543042.6:c.511C>T	ENSP00000439746.2:p.Leu171Phe
ENST00000642288.1:c.-3C>T	ENSP00000495167.1:n.-3C>T
ENST00000646117.1:c.511C>T	ENSP00000495421.1:p.Leu171Phe
ENST00000294053.7:c.511C>T	ENSP00000294053.3:p.Leu171Phe
ENST00000340729.9:c.456-22613C>T	ENSP00000340385.5:n.456-22613C>T
ENST00000437826.6:c.376C>T	ENSP00000407296.2:p.Leu126Phe
ENST00000445069.4:n.338C>T
ENST00000535477.5:c.511C>T	ENSP00000440423.1:p.Leu171Phe
ENST00000535990.5:c.526C>T	ENSP00000443822.1:p.Leu176Phe
ENST00000538039.5:c.511C>T	ENSP00000441518.1:p.Leu171Phe
ENST00000539148.3:c.73C>T	ENSP00000445327.1:p.Leu25Phe
ENST00000543042.5:c.-3C>T	ENSP00000439746.1:n.-3C>T
ENST00000544683.5:c.73C>T	ENSP00000442651.1:p.Leu25Phe
NM_001258392.1:c.511C>T	NP_001245321.1:p.Leu171Phe
NM_001258392.2:c.511C>T	NP_001245321.1:p.Leu171Phe
NM_001258393.1:c.456-22613C>T	NP_001245322.1:n.456-22613C>T
NM_001258393.2:c.456-22613C>T	NP_001245322.1:n.456-22613C>T
NM_001258394.1:c.376C>T	NP_001245323.1:p.Leu126Phe
NM_001258394.2:c.376C>T	NP_001245323.1:p.Leu126Phe
NM_030813.4:c.511C>T	NP_110440.1:p.Leu171Phe
NM_030813.5:c.511C>T	NP_110440.1:p.Leu171Phe
XM_005274320.1:c.456-22613C>T	XP_005274377.1:n.456-22613C>T
XM_011545288.1:c.511C>T	XP_011543590.1:p.Leu171Phe
XM_011545289.1:c.511C>T	XP_011543591.1:p.Leu171Phe
XM_011545289.2:c.511C>T	XP_011543591.1:p.Leu171Phe
NM_001258392.3:c.511C>T MANE Select	NP_001245321.1:p.Leu171Phe
NM_001258393.3:c.456-22613C>T	NP_001245322.1:n.456-22613C>T
NM_030813.6:c.511C>T MANE Plus Clinical	NP_110440.1:p.Leu171Phe
NM_001258394.3:c.376C>T	NP_001245323.1:p.Leu126Phe