Canonical Allele Identifier: CA10081237

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46438299T>C , CM000683.2:g.46438299T>C	GRCh38
NC_000021.8:g.47858212T>C , CM000683.1:g.47858212T>C	GRCh37
NC_000021.7:g.46682640T>C	NCBI36
NG_008961.1:g.119177T>C
NG_008961.2:g.119178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1817T>C
ENST00000695527.1:n.3580T>C
ENST00000695528.1:c.3268T>C	ENSP00000511990.1:p.Leu1090=
ENST00000695529.1:n.3031T>C
ENST00000695530.1:c.1817T>C
ENST00000695531.1:n.2837T>C
ENST00000695532.1:n.2837T>C
ENST00000695533.1:n.1905T>C
ENST00000695534.1:n.1629T>C
ENST00000695535.1:n.637T>C
ENST00000695536.1:n.542T>C
ENST00000695558.1:c.9268T>C	ENSP00000512015.1:p.Leu3090=
ENST00000703224.1:c.*8478T>C	ENSP00000515242.1:n.*8478T>C
ENST00000703226.1:n.1905T>C
ENST00000359568.10:c.9235T>C MANE Select	ENSP00000352572.5:p.Leu3079=
ENST00000359568.9:c.9235T>C	ENSP00000352572.5:p.Leu3079=
ENST00000418394.1:c.177T>C
ENST00000480896.5:n.9267T>C
NM_001315529.1:c.8644T>C	NP_001302458.1:p.Leu2882=
NM_006031.5:c.9235T>C	NP_006022.3:p.Leu3079=
XM_005261124.3:c.9268T>C	XP_005261181.1:p.Leu3090=
XM_011529593.1:c.9346T>C	XP_011527895.1:p.Leu3116=
XM_011529594.1:c.9316T>C	XP_011527896.1:p.Leu3106=
XM_005261124.5:c.9268T>C	XP_005261181.1:p.Leu3090=
XM_011529594.3:c.9316T>C	XP_011527896.1:p.Leu3106=
XM_017028362.2:c.8998T>C	XP_016883851.1:p.Leu3000=
XM_017028363.1:c.8914T>C	XP_016883852.1:p.Leu2972=
XM_024452082.1:c.8152T>C	XP_024307850.1:p.Leu2718=
XM_024452083.1:c.7048T>C	XP_024307851.1:p.Leu2350=
NM_006031.6:c.9235T>C MANE Select	NP_006022.3:p.Leu3079=
NM_001315529.2:c.8644T>C	NP_001302458.1:p.Leu2882=