Canonical Allele Identifier: CA371775615

Gene: POP1

Linked Data

• dbSNP Id: rs1586256002
• MyVariant Identifiers: chr8:g.99169966A>C (hg19) ; chr8:g.98157738A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157738A>C , CM000670.2:g.98157738A>C	GRCh38
NC_000008.10:g.99169966A>C , CM000670.1:g.99169966A>C	GRCh37
NC_000008.9:g.99239142A>C	NCBI36
NG_052869.1:g.45446A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2542A>C MANE Select	ENSP00000385787.2:p.Ile848Leu
ENST00000349693.3:c.2542A>C	ENSP00000339529.3:p.Ile848Leu
ENST00000401707.6:c.2542A>C	ENSP00000385787.2:p.Ile848Leu
NM_001145860.1:c.2542A>C	NP_001139332.1:p.Ile848Leu
NM_001145861.1:c.2542A>C	NP_001139333.1:p.Ile848Leu
NM_015029.2:c.2542A>C	NP_055844.2:p.Ile848Leu
NM_001145860.2:c.2542A>C MANE Select	NP_001139332.1:p.Ile848Leu
NM_001145861.2:c.2542A>C	NP_001139333.1:p.Ile848Leu
NM_015029.3:c.2542A>C	NP_055844.2:p.Ile848Leu