Canonical Allele Identifier: CA2688039206
Gene: POP1 HGNC NCBI

Linked Data

gnomAD v4: 8-98157611-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157611A>C , CM000670.2:g.98157611A>C GRCh38
NC_000008.10:g.99169839A>C , CM000670.1:g.99169839A>C GRCh37
NC_000008.9:g.99239015A>C NCBI36
NG_052869.1:g.45319A>C

Transcript Alleles

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