Canonical Allele Identifier: CA10080431

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46416802C>T , CM000683.2:g.46416802C>T	GRCh38
NC_000021.8:g.47836716C>T , CM000683.1:g.47836716C>T	GRCh37
NC_000021.7:g.46661144C>T	NCBI36
NG_008961.1:g.97681C>T
NG_008961.2:g.97681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.1229C>T
ENST00000695528.1:c.1058C>T	ENSP00000511990.1:p.Pro353Leu
ENST00000695529.1:n.1058C>T
ENST00000695558.1:c.6917C>T	ENSP00000512015.1:p.Pro2306Leu
ENST00000703224.1:c.*6127C>T	ENSP00000515242.1:n.*6127C>T
ENST00000359568.10:c.6884C>T MANE Select	ENSP00000352572.5:p.Pro2295Leu
ENST00000359568.9:c.6884C>T	ENSP00000352572.5:p.Pro2295Leu
ENST00000480896.5:n.7153C>T
NM_001315529.1:c.6530C>T	NP_001302458.1:p.Pro2177Leu
NM_006031.5:c.6884C>T	NP_006022.3:p.Pro2295Leu
XM_005261124.3:c.6917C>T	XP_005261181.1:p.Pro2306Leu
XM_011529593.1:c.6995C>T	XP_011527895.1:p.Pro2332Leu
XM_011529594.1:c.6965C>T	XP_011527896.1:p.Pro2322Leu
XM_005261124.5:c.6917C>T	XP_005261181.1:p.Pro2306Leu
XM_011529594.3:c.6965C>T	XP_011527896.1:p.Pro2322Leu
XM_017028362.2:c.6884C>T	XP_016883851.1:p.Pro2295Leu
XM_017028363.1:c.6563C>T	XP_016883852.1:p.Pro2188Leu
XM_024452082.1:c.5801C>T	XP_024307850.1:p.Pro1934Leu
XM_024452083.1:c.4697C>T	XP_024307851.1:p.Pro1566Leu
NM_006031.6:c.6884C>T MANE Select	NP_006022.3:p.Pro2295Leu
NM_001315529.2:c.6530C>T	NP_001302458.1:p.Pro2177Leu