Canonical Allele Identifier: CA371775402
Gene: POP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.99169859T>A (hg19) chr8:g.98157631T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157631T>A , CM000670.2:g.98157631T>A GRCh38
NC_000008.10:g.99169859T>A , CM000670.1:g.99169859T>A GRCh37
NC_000008.9:g.99239035T>A NCBI36
NG_052869.1:g.45339T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2435T>A MANE Select ENSP00000385787.2:p.Leu812Gln
ENST00000349693.3:c.2435T>A ENSP00000339529.3:p.Leu812Gln
ENST00000401707.6:c.2435T>A ENSP00000385787.2:p.Leu812Gln
ENST00000517435.1:n.470T>A
NM_001145860.1:c.2435T>A NP_001139332.1:p.Leu812Gln
NM_001145861.1:c.2435T>A NP_001139333.1:p.Leu812Gln
NM_015029.2:c.2435T>A NP_055844.2:p.Leu812Gln
NM_001145860.2:c.2435T>A MANE Select NP_001139332.1:p.Leu812Gln
NM_001145861.2:c.2435T>A NP_001139333.1:p.Leu812Gln
NM_015029.3:c.2435T>A NP_055844.2:p.Leu812Gln
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