Canonical Allele Identifier: CA10080599

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46425949C>T , CM000683.2:g.46425949C>T	GRCh38
NC_000021.8:g.47845863C>T , CM000683.1:g.47845863C>T	GRCh37
NC_000021.7:g.46670291C>T	NCBI36
NG_008961.1:g.106828C>T
NG_008961.2:g.106828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.117C>T
ENST00000695527.1:n.1643C>T
ENST00000695528.1:c.1354-1673C>T	ENSP00000511990.1:n.1354-1673C>T
ENST00000695529.1:n.1354-1673C>T
ENST00000695530.1:c.117C>T
ENST00000695558.1:c.7331C>T	ENSP00000512015.1:p.Ser2444Leu
ENST00000703224.1:c.*6541C>T	ENSP00000515242.1:n.*6541C>T
ENST00000359568.10:c.7298C>T MANE Select	ENSP00000352572.5:p.Ser2433Leu
ENST00000359568.9:c.7298C>T	ENSP00000352572.5:p.Ser2433Leu
ENST00000480896.5:n.7567C>T
NM_001315529.1:c.6944C>T	NP_001302458.1:p.Ser2315Leu
NM_006031.5:c.7298C>T	NP_006022.3:p.Ser2433Leu
XM_005261124.3:c.7331C>T	XP_005261181.1:p.Ser2444Leu
XM_011529593.1:c.7409C>T	XP_011527895.1:p.Ser2470Leu
XM_011529594.1:c.7379C>T	XP_011527896.1:p.Ser2460Leu
XM_005261124.5:c.7331C>T	XP_005261181.1:p.Ser2444Leu
XM_011529594.3:c.7379C>T	XP_011527896.1:p.Ser2460Leu
XM_017028362.2:c.7298C>T	XP_016883851.1:p.Ser2433Leu
XM_017028363.1:c.6977C>T	XP_016883852.1:p.Ser2326Leu
XM_024452082.1:c.6215C>T	XP_024307850.1:p.Ser2072Leu
XM_024452083.1:c.5111C>T	XP_024307851.1:p.Ser1704Leu
NM_006031.6:c.7298C>T MANE Select	NP_006022.3:p.Ser2433Leu
NM_001315529.2:c.6944C>T	NP_001302458.1:p.Ser2315Leu