Canonical Allele Identifier: CA2688038587

Gene: POP1

Linked Data

• gnomAD v4: 8-98148761-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98148761G>T , CM000670.2:g.98148761G>T	GRCh38
NC_000008.10:g.99160989G>T , CM000670.1:g.99160989G>T	GRCh37
NC_000008.9:g.99230165G>T	NCBI36
NG_052869.1:g.36469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.1711-54G>T MANE Select	ENSP00000385787.2:n.1711-54G>T
ENST00000349693.3:c.1711-54G>T	ENSP00000339529.3:n.1711-54G>T
ENST00000401707.6:c.1711-54G>T	ENSP00000385787.2:n.1711-54G>T
NM_001145860.1:c.1711-54G>T	NP_001139332.1:n.1711-54G>T
NM_001145861.1:c.1711-54G>T	NP_001139333.1:n.1711-54G>T
NM_015029.2:c.1711-54G>T	NP_055844.2:n.1711-54G>T
XM_011516800.1:c.1711-54G>T	XP_011515102.1:n.1711-54G>T
NM_001145860.2:c.1711-54G>T MANE Select	NP_001139332.1:n.1711-54G>T
NM_001145861.2:c.1711-54G>T	NP_001139333.1:n.1711-54G>T
NM_015029.3:c.1711-54G>T	NP_055844.2:n.1711-54G>T