Canonical Allele Identifier: CA513175749

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47855894G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435981G>C , CM000683.2:g.46435981G>C	GRCh38
NC_000021.8:g.47855894G>C , CM000683.1:g.47855894G>C	GRCh37
NC_000021.7:g.46680322G>C	NCBI36
NG_008961.1:g.116859G>C
NG_008961.2:g.116860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1411G>C
ENST00000695527.1:n.3174G>C
ENST00000695528.1:c.2862G>C	ENSP00000511990.1:p.Ser954=
ENST00000695529.1:n.2625G>C
ENST00000695530.1:c.1411G>C
ENST00000695531.1:n.2431G>C
ENST00000695532.1:n.2431G>C
ENST00000695533.1:n.1499G>C
ENST00000695534.1:n.1223G>C
ENST00000695535.1:n.304G>C
ENST00000695558.1:c.8862G>C	ENSP00000512015.1:p.Ser2954=
ENST00000703224.1:c.*8072G>C	ENSP00000515242.1:n.*8072G>C
ENST00000703226.1:n.1499G>C
ENST00000359568.10:c.8829G>C MANE Select	ENSP00000352572.5:p.Ser2943=
ENST00000359568.9:c.8829G>C	ENSP00000352572.5:p.Ser2943=
ENST00000480896.5:n.8861G>C
NM_001315529.1:c.8238G>C	NP_001302458.1:p.Ser2746=
NM_006031.5:c.8829G>C	NP_006022.3:p.Ser2943=
XM_005261124.3:c.8862G>C	XP_005261181.1:p.Ser2954=
XM_011529593.1:c.8940G>C	XP_011527895.1:p.Ser2980=
XM_011529594.1:c.8910G>C	XP_011527896.1:p.Ser2970=
XM_005261124.5:c.8862G>C	XP_005261181.1:p.Ser2954=
XM_011529594.3:c.8910G>C	XP_011527896.1:p.Ser2970=
XM_017028362.2:c.8592G>C	XP_016883851.1:p.Ser2864=
XM_017028363.1:c.8508G>C	XP_016883852.1:p.Ser2836=
XM_024452082.1:c.7746G>C	XP_024307850.1:p.Ser2582=
XM_024452083.1:c.6642G>C	XP_024307851.1:p.Ser2214=
NM_006031.6:c.8829G>C MANE Select	NP_006022.3:p.Ser2943=
NM_001315529.2:c.8238G>C	NP_001302458.1:p.Ser2746=