Canonical Allele Identifier: CA10080091

Gene: PCNT

Linked Data

• ClinVar Variation Id: 340509
• ClinVar RCV Id: RCV000387270 ; RCV000502501 ; RCV002057788 ; RCV003401361
• dbSNP Id: rs776640595
• ExAC: 21:47831779 G / T
• gnomAD v2: 21-47831779-G-T
• gnomAD v3: 21-46411865-G-T
• gnomAD v4: 21-46411865-G-T
• MyVariant Identifiers: chr21:g.47831779G>T (hg19) ; chr21:g.46411865G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411865G>T , CM000683.2:g.46411865G>T	GRCh38
NC_000021.8:g.47831779G>T , CM000683.1:g.47831779G>T	GRCh37
NC_000021.7:g.46656207G>T	NCBI36
NG_008961.1:g.92744G>T
NG_008961.2:g.92744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.137G>T
ENST00000695558.1:c.5825G>T	ENSP00000512015.1:p.Arg1942Leu
ENST00000703224.1:c.*5035G>T	ENSP00000515242.1:n.*5035G>T
ENST00000359568.10:c.5792G>T MANE Select	ENSP00000352572.5:p.Arg1931Leu
ENST00000359568.9:c.5792G>T	ENSP00000352572.5:p.Arg1931Leu
ENST00000480896.5:n.6061G>T
NM_001315529.1:c.5438G>T	NP_001302458.1:p.Arg1813Leu
NM_006031.5:c.5792G>T	NP_006022.3:p.Arg1931Leu
XM_005261124.3:c.5825G>T	XP_005261181.1:p.Arg1942Leu
XM_011529593.1:c.5903G>T	XP_011527895.1:p.Arg1968Leu
XM_011529594.1:c.5873G>T	XP_011527896.1:p.Arg1958Leu
XM_005261124.5:c.5825G>T	XP_005261181.1:p.Arg1942Leu
XM_011529594.3:c.5873G>T	XP_011527896.1:p.Arg1958Leu
XM_017028362.2:c.5792G>T	XP_016883851.1:p.Arg1931Leu
XM_017028363.1:c.5471G>T	XP_016883852.1:p.Arg1824Leu
XM_024452082.1:c.4709G>T	XP_024307850.1:p.Arg1570Leu
XM_024452083.1:c.3605G>T	XP_024307851.1:p.Arg1202Leu
NM_006031.6:c.5792G>T MANE Select	NP_006022.3:p.Arg1931Leu
NM_001315529.2:c.5438G>T	NP_001302458.1:p.Arg1813Leu