Canonical Allele Identifier: CA410555945

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831667G>C (hg19) ; chr21:g.46411753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411753G>C , CM000683.2:g.46411753G>C	GRCh38
NC_000021.8:g.47831667G>C , CM000683.1:g.47831667G>C	GRCh37
NC_000021.7:g.46656095G>C	NCBI36
NG_008961.1:g.92632G>C
NG_008961.2:g.92632G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.25G>C
ENST00000695558.1:c.5713G>C	ENSP00000512015.1:p.Val1905Leu
ENST00000703224.1:c.*4923G>C	ENSP00000515242.1:n.*4923G>C
ENST00000359568.10:c.5680G>C MANE Select	ENSP00000352572.5:p.Val1894Leu
ENST00000359568.9:c.5680G>C	ENSP00000352572.5:p.Val1894Leu
ENST00000480896.5:n.5949G>C
NM_001315529.1:c.5326G>C	NP_001302458.1:p.Val1776Leu
NM_006031.5:c.5680G>C	NP_006022.3:p.Val1894Leu
XM_005261124.3:c.5713G>C	XP_005261181.1:p.Val1905Leu
XM_011529593.1:c.5791G>C	XP_011527895.1:p.Val1931Leu
XM_011529594.1:c.5761G>C	XP_011527896.1:p.Val1921Leu
XM_005261124.5:c.5713G>C	XP_005261181.1:p.Val1905Leu
XM_011529594.3:c.5761G>C	XP_011527896.1:p.Val1921Leu
XM_017028362.2:c.5680G>C	XP_016883851.1:p.Val1894Leu
XM_017028363.1:c.5359G>C	XP_016883852.1:p.Val1787Leu
XM_024452082.1:c.4597G>C	XP_024307850.1:p.Val1533Leu
XM_024452083.1:c.3493G>C	XP_024307851.1:p.Val1165Leu
NM_006031.6:c.5680G>C MANE Select	NP_006022.3:p.Val1894Leu
NM_001315529.2:c.5326G>C	NP_001302458.1:p.Val1776Leu