Canonical Allele Identifier: CA5106096

Gene: AGTPBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.85575463C>T , CM000671.2:g.85575463C>T	GRCh38
NC_000009.11:g.88190378C>T , CM000671.1:g.88190378C>T	GRCh37
NC_000009.10:g.87380198C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001330701.2:c.3355G>A MANE Select	NP_001317630.1:p.Gly1119Ser
ENST00000357081.8:c.3355G>A MANE Select	ENSP00000349592.3:p.Gly1119Ser
NM_001286715.1:c.3511G>A	NP_001273644.1:p.Gly1171Ser
NM_001286717.1:c.3391G>A	NP_001273646.1:p.Gly1131Ser
NM_001330701.1:c.3355G>A	NP_001317630.1:p.Gly1119Ser
NM_015239.2:c.3235G>A	NP_056054.2:p.Gly1079Ser
NM_015239.3:c.3235G>A	NP_056054.2:p.Gly1079Ser
ENST00000337006.8:c.3511G>A	ENSP00000338512.5:p.Gly1171Ser
ENST00000357081.7:c.3355G>A	ENSP00000349592.3:p.Gly1119Ser
ENST00000376083.7:c.3235G>A	ENSP00000365251.3:p.Gly1079Ser
ENST00000489265.1:n.119G>A
ENST00000628899.1:c.3391G>A	ENSP00000487074.1:p.Gly1131Ser
XM_005251847.2:c.3355G>A	XP_005251904.1:p.Gly1119Ser
XM_005251848.2:c.3355G>A	XP_005251905.1:p.Gly1119Ser
XM_005251849.3:c.3001G>A	XP_005251906.1:p.Gly1001Ser
XM_011518418.1:c.3355G>A	XP_011516720.1:p.Gly1119Ser
XM_011518418.2:c.3355G>A	XP_011516720.1:p.Gly1119Ser
XM_011518420.1:c.2290G>A	XP_011516722.1:p.Gly764Ser
XM_011518420.2:c.2290G>A	XP_011516722.1:p.Gly764Ser
XM_017014545.1:c.3235G>A	XP_016870034.1:p.Gly1079Ser
XM_017014546.1:c.2881G>A	XP_016870035.1:p.Gly961Ser
XM_017014547.1:c.3001G>A	XP_016870036.1:p.Gly1001Ser
XM_017014548.2:c.2560G>A	XP_016870037.1:p.Gly854Ser
XM_017014549.1:c.2560G>A	XP_016870038.1:p.Gly854Ser
XM_024447472.1:c.2560G>A	XP_024303240.1:p.Gly854Ser
XR_001746261.1:n.3408G>A