Canonical Allele Identifier: CA1116995935
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs1809684673
gnomAD v3: 8-98157613-G-A
gnomAD v4: 8-98157613-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157613G>A , CM000670.2:g.98157613G>A GRCh38
NC_000008.10:g.99169841G>A , CM000670.1:g.99169841G>A GRCh37
NC_000008.9:g.99239017G>A NCBI36
NG_052869.1:g.45321G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2421-4G>A MANE Select ENSP00000385787.2:n.2421-4G>A
ENST00000349693.3:c.2421-4G>A ENSP00000339529.3:n.2421-4G>A
ENST00000401707.6:c.2421-4G>A ENSP00000385787.2:n.2421-4G>A
ENST00000517435.1:n.456-4G>A
NM_001145860.1:c.2421-4G>A NP_001139332.1:n.2421-4G>A
NM_001145861.1:c.2421-4G>A NP_001139333.1:n.2421-4G>A
NM_015029.2:c.2421-4G>A NP_055844.2:n.2421-4G>A
NM_001145860.2:c.2421-4G>A MANE Select NP_001139332.1:n.2421-4G>A
NM_001145861.2:c.2421-4G>A NP_001139333.1:n.2421-4G>A
NM_015029.3:c.2421-4G>A NP_055844.2:n.2421-4G>A
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