Canonical Allele Identifier: CA379474463

Gene: TPP1

Linked Data

• dbSNP Id: rs1194960743
• gnomAD v2: 11-6637677-G-A
• MyVariant Identifiers: chr11:g.6637677G>A (hg19) ; chr11:g.6616446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616446G>A , CM000673.2:g.6616446G>A	GRCh38
NC_000011.9:g.6637677G>A , CM000673.1:g.6637677G>A	GRCh37
NC_000011.8:g.6594253G>A	NCBI36
NG_008653.1:g.8016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.830C>T	ENSP00000507321.1:p.Ser277Leu
ENST00000299427.12:c.944C>T MANE Select	ENSP00000299427.6:p.Ser315Leu
ENST00000436873.7:c.313-372C>T
ENST00000530040.2:n.537C>T
ENST00000533371.6:c.215C>T	ENSP00000437066.1:p.Ser72Leu
ENST00000642892.1:c.215C>T	ENSP00000494165.1:p.Ser72Leu
ENST00000643342.1:c.34C>T
ENST00000643439.1:c.*684C>T	ENSP00000495849.1:n.*684C>T
ENST00000643479.1:n.1130C>T
ENST00000643516.1:c.453C>T
ENST00000644218.1:c.886+215C>T	ENSP00000493574.1:n.886+215C>T
ENST00000644683.1:c.*397C>T	ENSP00000494085.1:n.*397C>T
ENST00000644810.1:c.665C>T	ENSP00000495895.1:p.Ser222Leu
ENST00000644831.1:n.1120C>T
ENST00000644933.1:c.215C>T	ENSP00000496133.1:p.Ser72Leu
ENST00000645285.1:c.157+215C>T	ENSP00000495058.1:n.157+215C>T
ENST00000645331.1:n.1467C>T
ENST00000645620.1:c.215C>T	ENSP00000493657.1:p.Ser72Leu
ENST00000646691.1:n.37C>T
ENST00000646777.1:n.1277C>T
ENST00000647016.1:n.1424C>T
ENST00000647152.1:c.215C>T	ENSP00000495893.1:p.Ser72Leu
ENST00000647209.1:c.*813C>T	ENSP00000495558.1:n.*813C>T
ENST00000647346.1:n.1964C>T
ENST00000299427.10:c.944C>T	ENSP00000299427.6:p.Ser315Leu
ENST00000436873.6:c.508C>T	ENSP00000398136.2:p.Gln170Ter
ENST00000533371.5:c.215C>T	ENSP00000437066.1:p.Ser72Leu
ENST00000611494.4:c.944C>T	ENSP00000484546.1:p.Ser315Leu
NM_000391.3:c.944C>T	NP_000382.3:p.Ser315Leu
NM_000391.4:c.944C>T MANE Select	NP_000382.3:p.Ser315Leu