Canonical Allele Identifier: CA1805115778

Gene: POP1

Linked Data

• dbSNP Id: rs1809684724
• gnomAD v4: 8-98157614-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157614T>C , CM000670.2:g.98157614T>C	GRCh38
NC_000008.10:g.99169842T>C , CM000670.1:g.99169842T>C	GRCh37
NC_000008.9:g.99239018T>C	NCBI36
NG_052869.1:g.45322T>C

Transcript Alleles

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