Canonical Allele Identifier: CA462457304

Gene: POP1

Linked Data

• ClinVar Variation Id: 2964715
• ClinVar RCV Id: RCV003828337
• MyVariant Identifiers: chr8:g.99170235G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98158007G>T , CM000670.2:g.98158007G>T	GRCh38
NC_000008.10:g.99170235G>T , CM000670.1:g.99170235G>T	GRCh37
NC_000008.9:g.99239411G>T	NCBI36
NG_052869.1:g.45715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2811G>T MANE Select	ENSP00000385787.2:p.Val937=
ENST00000349693.3:c.2811G>T	ENSP00000339529.3:p.Val937=
ENST00000401707.6:c.2811G>T	ENSP00000385787.2:p.Val937=
NM_001145860.1:c.2811G>T	NP_001139332.1:p.Val937=
NM_001145861.1:c.2811G>T	NP_001139333.1:p.Val937=
NM_015029.2:c.2811G>T	NP_055844.2:p.Val937=
NM_001145860.2:c.2811G>T MANE Select	NP_001139332.1:p.Val937=
NM_001145861.2:c.2811G>T	NP_001139333.1:p.Val937=
NM_015029.3:c.2811G>T	NP_055844.2:p.Val937=