Canonical Allele Identifier: CA4820947

Gene: POP1

Linked Data

• dbSNP Id: rs766778437
• ExAC: 8:99170454 C / T
• gnomAD v2: 8-99170454-C-T
• gnomAD v4: 8-98158226-C-T
• MyVariant Identifiers: chr8:g.99170454C>T (hg19) ; chr8:g.98158226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98158226C>T , CM000670.2:g.98158226C>T	GRCh38
NC_000008.10:g.99170454C>T , CM000670.1:g.99170454C>T	GRCh37
NC_000008.9:g.99239630C>T	NCBI36
NG_052869.1:g.45934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.3030C>T MANE Select	ENSP00000385787.2:p.Pro1010=
ENST00000349693.3:c.3030C>T	ENSP00000339529.3:p.Pro1010=
ENST00000401707.6:c.3030C>T	ENSP00000385787.2:p.Pro1010=
NM_001145860.1:c.3030C>T	NP_001139332.1:p.Pro1010=
NM_001145861.1:c.3030C>T	NP_001139333.1:p.Pro1010=
NM_015029.2:c.3030C>T	NP_055844.2:p.Pro1010=
NM_001145860.2:c.3030C>T MANE Select	NP_001139332.1:p.Pro1010=
NM_001145861.2:c.3030C>T	NP_001139333.1:p.Pro1010=
NM_015029.3:c.3030C>T	NP_055844.2:p.Pro1010=