Canonical Allele Identifier: CA4820949

Gene: POP1

Linked Data

• dbSNP Id: rs755145053
• ExAC: 8:99170459 C / G
• gnomAD v2: 8-99170459-C-G
• gnomAD v3: 8-98158231-C-G
• gnomAD v4: 8-98158231-C-G
• MyVariant Identifiers: chr8:g.99170459C>G (hg19) ; chr8:g.98158231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98158231C>G , CM000670.2:g.98158231C>G	GRCh38
NC_000008.10:g.99170459C>G , CM000670.1:g.99170459C>G	GRCh37
NC_000008.9:g.99239635C>G	NCBI36
NG_052869.1:g.45939C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.3035C>G MANE Select	ENSP00000385787.2:p.Ser1012Cys
ENST00000349693.3:c.3035C>G	ENSP00000339529.3:p.Ser1012Cys
ENST00000401707.6:c.3035C>G	ENSP00000385787.2:p.Ser1012Cys
NM_001145860.1:c.3035C>G	NP_001139332.1:p.Ser1012Cys
NM_001145861.1:c.3035C>G	NP_001139333.1:p.Ser1012Cys
NM_015029.2:c.3035C>G	NP_055844.2:p.Ser1012Cys
NM_001145860.2:c.3035C>G MANE Select	NP_001139332.1:p.Ser1012Cys
NM_001145861.2:c.3035C>G	NP_001139333.1:p.Ser1012Cys
NM_015029.3:c.3035C>G	NP_055844.2:p.Ser1012Cys