Canonical Allele Identifier: CA10080007

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411578G>A , CM000683.2:g.46411578G>A	GRCh38
NC_000021.8:g.47831492G>A , CM000683.1:g.47831492G>A	GRCh37
NC_000021.7:g.46655920G>A	NCBI36
NG_008961.1:g.92457G>A
NG_008961.2:g.92457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695558.1:c.5538G>A	ENSP00000512015.1:p.Leu1846=
ENST00000703224.1:c.*4748G>A	ENSP00000515242.1:n.*4748G>A
ENST00000359568.10:c.5505G>A MANE Select	ENSP00000352572.5:p.Leu1835=
ENST00000359568.9:c.5505G>A	ENSP00000352572.5:p.Leu1835=
ENST00000480896.5:n.5774G>A
NM_001315529.1:c.5151G>A	NP_001302458.1:p.Leu1717=
NM_006031.5:c.5505G>A	NP_006022.3:p.Leu1835=
XM_005261124.3:c.5538G>A	XP_005261181.1:p.Leu1846=
XM_011529593.1:c.5616G>A	XP_011527895.1:p.Leu1872=
XM_011529594.1:c.5586G>A	XP_011527896.1:p.Leu1862=
XM_005261124.5:c.5538G>A	XP_005261181.1:p.Leu1846=
XM_011529594.3:c.5586G>A	XP_011527896.1:p.Leu1862=
XM_017028362.2:c.5505G>A	XP_016883851.1:p.Leu1835=
XM_017028363.1:c.5184G>A	XP_016883852.1:p.Leu1728=
XM_024452082.1:c.4422G>A	XP_024307850.1:p.Leu1474=
XM_024452083.1:c.3318G>A	XP_024307851.1:p.Leu1106=
NM_006031.6:c.5505G>A MANE Select	NP_006022.3:p.Leu1835=
NM_001315529.2:c.5151G>A	NP_001302458.1:p.Leu1717=