Canonical Allele Identifier: CA410568778

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46427705G>T , CM000683.2:g.46427705G>T	GRCh38
NC_000021.8:g.47847619G>T , CM000683.1:g.47847619G>T	GRCh37
NC_000021.7:g.46672047G>T	NCBI36
NG_008961.1:g.108584G>T
NG_008961.2:g.108584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.223G>T
ENST00000695527.1:n.1749G>T
ENST00000695528.1:c.1437G>T	ENSP00000511990.1:p.Gln479His
ENST00000695529.1:n.1437G>T
ENST00000695530.1:c.223G>T
ENST00000695531.1:n.1006G>T
ENST00000695532.1:n.1006G>T
ENST00000695558.1:c.7437G>T	ENSP00000512015.1:p.Gln2479His
ENST00000703224.1:c.*6647G>T	ENSP00000515242.1:n.*6647G>T
ENST00000359568.10:c.7404G>T MANE Select	ENSP00000352572.5:p.Gln2468His
ENST00000359568.9:c.7404G>T	ENSP00000352572.5:p.Gln2468His
ENST00000480896.5:n.7673G>T
NM_001315529.1:c.7050G>T	NP_001302458.1:p.Gln2350His
NM_006031.5:c.7404G>T	NP_006022.3:p.Gln2468His
XM_005261124.3:c.7437G>T	XP_005261181.1:p.Gln2479His
XM_011529593.1:c.7515G>T	XP_011527895.1:p.Gln2505His
XM_011529594.1:c.7485G>T	XP_011527896.1:p.Gln2495His
XM_005261124.5:c.7437G>T	XP_005261181.1:p.Gln2479His
XM_011529594.3:c.7485G>T	XP_011527896.1:p.Gln2495His
XM_017028362.2:c.7404G>T	XP_016883851.1:p.Gln2468His
XM_017028363.1:c.7083G>T	XP_016883852.1:p.Gln2361His
XM_024452082.1:c.6321G>T	XP_024307850.1:p.Gln2107His
XM_024452083.1:c.5217G>T	XP_024307851.1:p.Gln1739His
NM_006031.6:c.7404G>T MANE Select	NP_006022.3:p.Gln2468His
NM_001315529.2:c.7050G>T	NP_001302458.1:p.Gln2350His