Canonical Allele Identifier: CA371777606

Gene: POP1

Linked Data

• gnomAD v4: 8-98158083-C-G
• MyVariant Identifiers: chr8:g.99170311C>G (hg19) ; chr8:g.98158083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98158083C>G , CM000670.2:g.98158083C>G	GRCh38
NC_000008.10:g.99170311C>G , CM000670.1:g.99170311C>G	GRCh37
NC_000008.9:g.99239487C>G	NCBI36
NG_052869.1:g.45791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2887C>G MANE Select	ENSP00000385787.2:p.Leu963Val
ENST00000349693.3:c.2887C>G	ENSP00000339529.3:p.Leu963Val
ENST00000401707.6:c.2887C>G	ENSP00000385787.2:p.Leu963Val
NM_001145860.1:c.2887C>G	NP_001139332.1:p.Leu963Val
NM_001145861.1:c.2887C>G	NP_001139333.1:p.Leu963Val
NM_015029.2:c.2887C>G	NP_055844.2:p.Leu963Val
NM_001145860.2:c.2887C>G MANE Select	NP_001139332.1:p.Leu963Val
NM_001145861.2:c.2887C>G	NP_001139333.1:p.Leu963Val
NM_015029.3:c.2887C>G	NP_055844.2:p.Leu963Val