Canonical Allele Identifier: CA379472598

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615215-C-G
• MyVariant Identifiers: chr11:g.6636446C>G (hg19) ; chr11:g.6615215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615215C>G , CM000673.2:g.6615215C>G	GRCh38
NC_000011.9:g.6636446C>G , CM000673.1:g.6636446C>G	GRCh37
NC_000011.8:g.6593022C>G	NCBI36
NG_008653.1:g.9247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1267G>C	ENSP00000507321.1:p.Val423Leu
ENST00000299427.12:c.1381G>C MANE Select	ENSP00000299427.6:p.Val461Leu
ENST00000524611.2:n.241G>C
ENST00000524924.2:n.501G>C
ENST00000533371.6:c.652G>C	ENSP00000437066.1:p.Val218Leu
ENST00000642892.1:c.652G>C	ENSP00000494165.1:p.Val218Leu
ENST00000643342.1:c.454G>C
ENST00000643439.1:c.*1121G>C	ENSP00000495849.1:n.*1121G>C
ENST00000643479.1:n.1567G>C
ENST00000643516.1:c.890G>C
ENST00000644218.1:c.1192G>C	ENSP00000493574.1:p.Val398Leu
ENST00000644683.1:c.*834G>C	ENSP00000494085.1:n.*834G>C
ENST00000644810.1:c.1102G>C	ENSP00000495895.1:p.Val368Leu
ENST00000644831.1:n.1557G>C
ENST00000644933.1:c.*247G>C	ENSP00000496133.1:n.*247G>C
ENST00000645285.1:c.*247G>C	ENSP00000495058.1:n.*247G>C
ENST00000645331.1:n.2586G>C
ENST00000645620.1:c.652G>C	ENSP00000493657.1:p.Val218Leu
ENST00000646691.1:n.1268G>C
ENST00000646777.1:n.1714G>C
ENST00000647016.1:n.1861G>C
ENST00000647152.1:c.652G>C	ENSP00000495893.1:p.Val218Leu
ENST00000647209.1:c.*1250G>C	ENSP00000495558.1:n.*1250G>C
ENST00000647346.1:n.2401G>C
ENST00000299427.10:c.1381G>C	ENSP00000299427.6:p.Val461Leu
ENST00000524611.1:n.259G>C
ENST00000533371.5:c.652G>C	ENSP00000437066.1:p.Val218Leu
ENST00000611494.4:c.1381G>C	ENSP00000484546.1:p.Val461Leu
NM_000391.3:c.1381G>C	NP_000382.3:p.Val461Leu
NM_000391.4:c.1381G>C MANE Select	NP_000382.3:p.Val461Leu