Canonical Allele Identifier: CA321998169

Gene: PCNT

Linked Data

• dbSNP Id: rs779223539
• gnomAD v2: 21-47831755-G-T
• gnomAD v3: 21-46411841-G-T
• gnomAD v4: 21-46411841-G-T
• MyVariant Identifiers: chr21:g.47831755G>T (hg19) ; chr21:g.46411841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411841G>T , CM000683.2:g.46411841G>T	GRCh38
NC_000021.8:g.47831755G>T , CM000683.1:g.47831755G>T	GRCh37
NC_000021.7:g.46656183G>T	NCBI36
NG_008961.1:g.92720G>T
NG_008961.2:g.92720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.113G>T
ENST00000695558.1:c.5801G>T	ENSP00000512015.1:p.Arg1934Leu
ENST00000703224.1:c.*5011G>T	ENSP00000515242.1:n.*5011G>T
ENST00000359568.10:c.5768G>T MANE Select	ENSP00000352572.5:p.Arg1923Leu
ENST00000359568.9:c.5768G>T	ENSP00000352572.5:p.Arg1923Leu
ENST00000480896.5:n.6037G>T
NM_001315529.1:c.5414G>T	NP_001302458.1:p.Arg1805Leu
NM_006031.5:c.5768G>T	NP_006022.3:p.Arg1923Leu
XM_005261124.3:c.5801G>T	XP_005261181.1:p.Arg1934Leu
XM_011529593.1:c.5879G>T	XP_011527895.1:p.Arg1960Leu
XM_011529594.1:c.5849G>T	XP_011527896.1:p.Arg1950Leu
XM_005261124.5:c.5801G>T	XP_005261181.1:p.Arg1934Leu
XM_011529594.3:c.5849G>T	XP_011527896.1:p.Arg1950Leu
XM_017028362.2:c.5768G>T	XP_016883851.1:p.Arg1923Leu
XM_017028363.1:c.5447G>T	XP_016883852.1:p.Arg1816Leu
XM_024452082.1:c.4685G>T	XP_024307850.1:p.Arg1562Leu
XM_024452083.1:c.3581G>T	XP_024307851.1:p.Arg1194Leu
NM_006031.6:c.5768G>T MANE Select	NP_006022.3:p.Arg1923Leu
NM_001315529.2:c.5414G>T	NP_001302458.1:p.Arg1805Leu