Canonical Allele Identifier: CA371775568
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs1181740319
gnomAD v2: 8-99169943-T-G
gnomAD v4: 8-98157715-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157715T>G , CM000670.2:g.98157715T>G GRCh38
NC_000008.10:g.99169943T>G , CM000670.1:g.99169943T>G GRCh37
NC_000008.9:g.99239119T>G NCBI36
NG_052869.1:g.45423T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2519T>G MANE Select ENSP00000385787.2:p.Leu840Trp
ENST00000349693.3:c.2519T>G ENSP00000339529.3:p.Leu840Trp
ENST00000401707.6:c.2519T>G ENSP00000385787.2:p.Leu840Trp
NM_001145860.1:c.2519T>G NP_001139332.1:p.Leu840Trp
NM_001145861.1:c.2519T>G NP_001139333.1:p.Leu840Trp
NM_015029.2:c.2519T>G NP_055844.2:p.Leu840Trp
NM_001145860.2:c.2519T>G MANE Select NP_001139332.1:p.Leu840Trp
NM_001145861.2:c.2519T>G NP_001139333.1:p.Leu840Trp
NM_015029.3:c.2519T>G NP_055844.2:p.Leu840Trp