Canonical Allele Identifier: CA410579389

Gene: PCNT

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46443844A>T , CM000683.2:g.46443844A>T	GRCh38
NC_000021.8:g.47863757A>T , CM000683.1:g.47863757A>T	GRCh37
NC_000021.7:g.46688185A>T	NCBI36
NG_008961.1:g.124722A>T
NG_008961.2:g.124723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.2282+1271A>T
ENST00000695527.1:n.5316A>T
ENST00000695528.1:c.3768A>T	ENSP00000511990.1:p.Arg1256Ser
ENST00000695529.1:n.3531A>T
ENST00000695530.1:c.2206-1440A>T
ENST00000695531.1:n.3337A>T
ENST00000695532.1:n.3302+1271A>T
ENST00000695533.1:n.2405A>T
ENST00000695534.1:n.2129A>T
ENST00000695535.1:n.1102+1271A>T
ENST00000695536.1:n.1042A>T
ENST00000695537.1:n.764-850A>T
ENST00000695558.1:c.9768A>T	ENSP00000512015.1:p.Arg3256Ser
ENST00000703224.1:c.*8978A>T	ENSP00000515242.1:n.*8978A>T
ENST00000703226.1:n.2405A>T
ENST00000359568.10:c.9735A>T MANE Select	ENSP00000352572.5:p.Arg3245Ser
ENST00000359568.9:c.9735A>T	ENSP00000352572.5:p.Arg3245Ser
ENST00000418394.1:c.642+1271A>T
ENST00000480896.5:n.9767A>T
NM_001315529.1:c.9144A>T	NP_001302458.1:p.Arg3048Ser
NM_006031.5:c.9735A>T	NP_006022.3:p.Arg3245Ser
XM_005261124.3:c.9768A>T	XP_005261181.1:p.Arg3256Ser
XM_011529593.1:c.9846A>T	XP_011527895.1:p.Arg3282Ser
XM_011529594.1:c.9816A>T	XP_011527896.1:p.Arg3272Ser
XM_005261124.5:c.9768A>T	XP_005261181.1:p.Arg3256Ser
XM_011529594.3:c.9816A>T	XP_011527896.1:p.Arg3272Ser
XM_017028362.2:c.9498A>T	XP_016883851.1:p.Arg3166Ser
XM_017028363.1:c.9414A>T	XP_016883852.1:p.Arg3138Ser
XM_024452082.1:c.8652A>T	XP_024307850.1:p.Arg2884Ser
XM_024452083.1:c.7548A>T	XP_024307851.1:p.Arg2516Ser
NM_006031.6:c.9735A>T MANE Select	NP_006022.3:p.Arg3245Ser
NM_001315529.2:c.9144A>T	NP_001302458.1:p.Arg3048Ser