Canonical Allele Identifier: CA8845182

Gene: PYCR1

Linked Data

• dbSNP Id: rs774256469
• ExAC: 17:79890777 C / T
• gnomAD v2: 17-79890777-C-T
• gnomAD v4: 17-81932901-C-T
• MyVariant Identifiers: chr17:g.79890777C>T (hg19) ; chr17:g.81932901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81932901C>T , CM000679.2:g.81932901C>T	GRCh38
NC_000017.10:g.79890777C>T , CM000679.1:g.79890777C>T	GRCh37
NC_000017.9:g.77484068C>T	NCBI36
NG_023032.1:g.9192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.*313G>A MANE Select	ENSP00000328858.8:n.*313G>A
ENST00000329875.12:c.*313G>A	ENSP00000328858.8:n.*313G>A
ENST00000337943.9:c.930G>A	ENSP00000336579.5:p.Gln310=
ENST00000403172.8:c.*313G>A	ENSP00000385483.4:n.*313G>A
ENST00000619204.4:c.*313G>A	ENSP00000479793.1:n.*313G>A
ENST00000629768.2:c.*455G>A	ENSP00000485679.1:n.*455G>A
NM_001282279.1:c.*313G>A	NP_001269208.1:n.*313G>A
NM_001282280.1:c.*313G>A	NP_001269209.1:n.*313G>A
NM_001282281.1:c.*313G>A	NP_001269210.1:n.*313G>A
NM_006907.3:c.*313G>A	NP_008838.2:n.*313G>A
NM_153824.2:c.930G>A	NP_722546.1:p.Gln310=
XM_005256381.1:c.*313G>A	XP_005256438.1:n.*313G>A
XM_011523583.1:c.*313G>A	XP_011521885.1:n.*313G>A
XM_011523584.1:c.*313G>A	XP_011521886.1:n.*313G>A
XM_011523585.1:c.*455G>A	XP_011521887.1:n.*455G>A
NM_001330523.1:c.*455G>A	NP_001317452.1:n.*455G>A
XM_005256381.2:c.*313G>A	XP_005256438.1:n.*313G>A
XM_011523583.2:c.*313G>A	XP_011521885.1:n.*313G>A
XM_011523584.3:c.*313G>A	XP_011521886.1:n.*313G>A
XM_011523585.2:c.*455G>A	XP_011521887.1:n.*455G>A
XM_024450849.1:c.*313G>A	XP_024306617.1:n.*313G>A
NM_001282279.2:c.*313G>A	NP_001269208.1:n.*313G>A
NM_001282281.2:c.*313G>A	NP_001269210.1:n.*313G>A
NM_006907.4:c.*313G>A MANE Select	NP_008838.2:n.*313G>A
NM_153824.3:c.930G>A	NP_722546.1:p.Gln310=
NM_001282280.2:c.*313G>A	NP_001269209.1:n.*313G>A
NM_001330523.2:c.*455G>A	NP_001317452.1:n.*455G>A