Canonical Allele Identifier: CA10079156

Gene: PCNT

Linked Data

• dbSNP Id: rs747524559
• ExAC: 21:47786929 C / T
• gnomAD v2: 21-47786929-C-T
• gnomAD v4: 21-46367014-C-T
• MyVariant Identifiers: chr21:g.47786929C>T (hg19) ; chr21:g.47786929_47786931delinsTAA (hg19) ; chr21:g.46367014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367014C>T , CM000683.2:g.46367014C>T	GRCh38
NC_000021.8:g.47786929C>T , CM000683.1:g.47786929C>T	GRCh37
NC_000021.7:g.46611357C>T	NCBI36
NG_008961.1:g.47894C>T
NG_008961.2:g.47893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1536C>T	ENSP00000511987.1:n.*1536C>T
ENST00000695525.1:n.3126C>T
ENST00000695558.1:c.3040C>T	ENSP00000512015.1:p.Gln1014Ter
ENST00000703224.1:c.*2283C>T	ENSP00000515242.1:n.*2283C>T
ENST00000359568.10:c.3040C>T MANE Select	ENSP00000352572.5:p.Gln1014Ter
ENST00000359568.9:c.3040C>T	ENSP00000352572.5:p.Gln1014Ter
ENST00000480896.5:n.3309C>T
NM_001315529.1:c.2686C>T	NP_001302458.1:p.Gln896Ter
NM_006031.5:c.3040C>T	NP_006022.3:p.Gln1014Ter
XM_005261124.3:c.3040C>T	XP_005261181.1:p.Gln1014Ter
XM_011529593.1:c.3121C>T	XP_011527895.1:p.Gln1041Ter
XM_011529594.1:c.3121C>T	XP_011527896.1:p.Gln1041Ter
XM_005261124.5:c.3040C>T	XP_005261181.1:p.Gln1014Ter
XM_011529594.3:c.3121C>T	XP_011527896.1:p.Gln1041Ter
XM_017028362.2:c.3040C>T	XP_016883851.1:p.Gln1014Ter
XM_017028363.1:c.2686C>T	XP_016883852.1:p.Gln896Ter
XM_024452082.1:c.1924C>T	XP_024307850.1:p.Gln642Ter
XM_024452083.1:c.820C>T	XP_024307851.1:p.Gln274Ter
NM_006031.6:c.3040C>T MANE Select	NP_006022.3:p.Gln1014Ter
NM_001315529.2:c.2686C>T	NP_001302458.1:p.Gln896Ter