Canonical Allele Identifier: CA410570500

Gene: PCNT

Linked Data

• dbSNP Id: rs1393533397
• gnomAD v2: 21-47787001-G-A
• gnomAD v4: 21-46367086-G-A
• MyVariant Identifiers: chr21:g.47787001G>A (hg19) ; chr21:g.46367086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367086G>A , CM000683.2:g.46367086G>A	GRCh38
NC_000021.8:g.47787001G>A , CM000683.1:g.47787001G>A	GRCh37
NC_000021.7:g.46611429G>A	NCBI36
NG_008961.1:g.47966G>A
NG_008961.2:g.47965G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.*1608G>A	ENSP00000511987.1:n.*1608G>A
ENST00000695525.1:n.3198G>A
ENST00000695558.1:c.3112G>A	ENSP00000512015.1:p.Val1038Met
ENST00000703224.1:c.*2355G>A	ENSP00000515242.1:n.*2355G>A
ENST00000359568.10:c.3112G>A MANE Select	ENSP00000352572.5:p.Val1038Met
ENST00000359568.9:c.3112G>A	ENSP00000352572.5:p.Val1038Met
ENST00000480896.5:n.3381G>A
NM_001315529.1:c.2758G>A	NP_001302458.1:p.Val920Met
NM_006031.5:c.3112G>A	NP_006022.3:p.Val1038Met
XM_005261124.3:c.3112G>A	XP_005261181.1:p.Val1038Met
XM_011529593.1:c.3193G>A	XP_011527895.1:p.Val1065Met
XM_011529594.1:c.3193G>A	XP_011527896.1:p.Val1065Met
XM_005261124.5:c.3112G>A	XP_005261181.1:p.Val1038Met
XM_011529594.3:c.3193G>A	XP_011527896.1:p.Val1065Met
XM_017028362.2:c.3112G>A	XP_016883851.1:p.Val1038Met
XM_017028363.1:c.2758G>A	XP_016883852.1:p.Val920Met
XM_024452082.1:c.1996G>A	XP_024307850.1:p.Val666Met
XM_024452083.1:c.892G>A	XP_024307851.1:p.Val298Met
NM_006031.6:c.3112G>A MANE Select	NP_006022.3:p.Val1038Met
NM_001315529.2:c.2758G>A	NP_001302458.1:p.Val920Met