Canonical Allele Identifier: CA410555951

Gene: PCNT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.25G>T
ENST00000695558.1:c.5713G>T	ENSP00000512015.1:p.Val1905Phe
ENST00000703224.1:c.*4923G>T	ENSP00000515242.1:n.*4923G>T
ENST00000359568.10:c.5680G>T MANE Select	ENSP00000352572.5:p.Val1894Phe
ENST00000359568.9:c.5680G>T	ENSP00000352572.5:p.Val1894Phe
ENST00000480896.5:n.5949G>T
NM_001315529.1:c.5326G>T	NP_001302458.1:p.Val1776Phe
NM_006031.5:c.5680G>T	NP_006022.3:p.Val1894Phe
XM_005261124.3:c.5713G>T	XP_005261181.1:p.Val1905Phe
XM_011529593.1:c.5791G>T	XP_011527895.1:p.Val1931Phe
XM_011529594.1:c.5761G>T	XP_011527896.1:p.Val1921Phe
XM_005261124.5:c.5713G>T	XP_005261181.1:p.Val1905Phe
XM_011529594.3:c.5761G>T	XP_011527896.1:p.Val1921Phe
XM_017028362.2:c.5680G>T	XP_016883851.1:p.Val1894Phe
XM_017028363.1:c.5359G>T	XP_016883852.1:p.Val1787Phe
XM_024452082.1:c.4597G>T	XP_024307850.1:p.Val1533Phe
XM_024452083.1:c.3493G>T	XP_024307851.1:p.Val1165Phe
NM_006031.6:c.5680G>T MANE Select	NP_006022.3:p.Val1894Phe
NM_001315529.2:c.5326G>T	NP_001302458.1:p.Val1776Phe