Canonical Allele Identifier: CA371778238
Gene: POP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158165T>G , CM000670.2:g.98158165T>G GRCh38
NC_000008.10:g.99170393T>G , CM000670.1:g.99170393T>G GRCh37
NC_000008.9:g.99239569T>G NCBI36
NG_052869.1:g.45873T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2969T>G MANE Select ENSP00000385787.2:p.Leu990Trp
ENST00000349693.3:c.2969T>G ENSP00000339529.3:p.Leu990Trp
ENST00000401707.6:c.2969T>G ENSP00000385787.2:p.Leu990Trp
NM_001145860.1:c.2969T>G NP_001139332.1:p.Leu990Trp
NM_001145861.1:c.2969T>G NP_001139333.1:p.Leu990Trp
NM_015029.2:c.2969T>G NP_055844.2:p.Leu990Trp
NM_001145860.2:c.2969T>G MANE Select NP_001139332.1:p.Leu990Trp
NM_001145861.2:c.2969T>G NP_001139333.1:p.Leu990Trp
NM_015029.3:c.2969T>G NP_055844.2:p.Leu990Trp