Canonical Allele Identifier: CA513174061

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411860-C-A
• MyVariant Identifiers: chr21:g.47831774C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411860C>A , CM000683.2:g.46411860C>A	GRCh38
NC_000021.8:g.47831774C>A , CM000683.1:g.47831774C>A	GRCh37
NC_000021.7:g.46656202C>A	NCBI36
NG_008961.1:g.92739C>A
NG_008961.2:g.92739C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.132C>A
ENST00000695558.1:c.5820C>A	ENSP00000512015.1:p.Leu1940=
ENST00000703224.1:c.*5030C>A	ENSP00000515242.1:n.*5030C>A
ENST00000359568.10:c.5787C>A MANE Select	ENSP00000352572.5:p.Leu1929=
ENST00000359568.9:c.5787C>A	ENSP00000352572.5:p.Leu1929=
ENST00000480896.5:n.6056C>A
NM_001315529.1:c.5433C>A	NP_001302458.1:p.Leu1811=
NM_006031.5:c.5787C>A	NP_006022.3:p.Leu1929=
XM_005261124.3:c.5820C>A	XP_005261181.1:p.Leu1940=
XM_011529593.1:c.5898C>A	XP_011527895.1:p.Leu1966=
XM_011529594.1:c.5868C>A	XP_011527896.1:p.Leu1956=
XM_005261124.5:c.5820C>A	XP_005261181.1:p.Leu1940=
XM_011529594.3:c.5868C>A	XP_011527896.1:p.Leu1956=
XM_017028362.2:c.5787C>A	XP_016883851.1:p.Leu1929=
XM_017028363.1:c.5466C>A	XP_016883852.1:p.Leu1822=
XM_024452082.1:c.4704C>A	XP_024307850.1:p.Leu1568=
XM_024452083.1:c.3600C>A	XP_024307851.1:p.Leu1200=
NM_006031.6:c.5787C>A MANE Select	NP_006022.3:p.Leu1929=
NM_001315529.2:c.5433C>A	NP_001302458.1:p.Leu1811=