Canonical Allele Identifier: CA122952

Gene: PYCR1

Linked Data

• ClinVar Variation Id: 13191
• ClinVar RCV Id: RCV000014079
• dbSNP Id: rs121918375
• gnomAD v4: 17-81934670-C-A
• MyVariant Identifiers: chr17:g.79892546C>A (hg19) ; chr17:g.81934670C>A (hg38)
• PubMed: PMID:16045708 ; PMID:19648921

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81934670C>A , CM000679.2:g.81934670C>A	GRCh38
NC_000017.10:g.79892546C>A , CM000679.1:g.79892546C>A	GRCh37
NC_000017.9:g.77485837C>A	NCBI36
NG_023032.1:g.7423G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329875.13:c.616G>T MANE Select	ENSP00000328858.8:p.Gly206Trp
ENST00000329875.12:c.616G>T	ENSP00000328858.8:p.Gly206Trp
ENST00000337943.9:c.616G>T	ENSP00000336579.5:p.Gly206Trp
ENST00000402252.6:c.697G>T	ENSP00000384949.2:p.Gly233Trp
ENST00000403172.8:c.541-181G>T	ENSP00000385483.4:n.541-181G>T
ENST00000405481.8:c.616G>T	ENSP00000386002.4:p.Gly206Trp
ENST00000577756.5:c.616G>T	ENSP00000463352.1:p.Gly206Trp
ENST00000582198.5:c.526G>T	ENSP00000463226.1:p.Gly176Trp
ENST00000584848.5:c.501+256G>T	ENSP00000463342.1:n.501+256G>T
ENST00000585215.5:c.616G>T	ENSP00000463343.1:p.Gly206Trp
ENST00000619204.4:c.616G>T	ENSP00000479793.1:p.Gly206Trp
ENST00000629768.2:c.616G>T	ENSP00000485679.1:p.Gly206Trp
NM_001282279.1:c.541-181G>T	NP_001269208.1:n.541-181G>T
NM_001282280.1:c.616G>T	NP_001269209.1:p.Gly206Trp
NM_001282281.1:c.697G>T	NP_001269210.1:p.Gly233Trp
NM_006907.3:c.616G>T	NP_008838.2:p.Gly206Trp
NM_153824.2:c.616G>T	NP_722546.1:p.Gly206Trp
XM_005256381.1:c.616G>T	XP_005256438.1:p.Gly206Trp
XM_011523583.1:c.616G>T	XP_011521885.1:p.Gly206Trp
XM_011523584.1:c.616G>T	XP_011521886.1:p.Gly206Trp
XM_011523585.1:c.697G>T	XP_011521887.1:p.Gly233Trp
NM_001330523.1:c.616G>T	NP_001317452.1:p.Gly206Trp
XM_005256381.2:c.616G>T	XP_005256438.1:p.Gly206Trp
XM_011523583.2:c.616G>T	XP_011521885.1:p.Gly206Trp
XM_011523584.3:c.616G>T	XP_011521886.1:p.Gly206Trp
XM_011523585.2:c.697G>T	XP_011521887.1:p.Gly233Trp
XM_024450849.1:c.616G>T	XP_024306617.1:p.Gly206Trp
NM_001282279.2:c.541-181G>T	NP_001269208.1:n.541-181G>T
NM_001282281.2:c.697G>T	NP_001269210.1:p.Gly233Trp
NM_006907.4:c.616G>T MANE Select	NP_008838.2:p.Gly206Trp
NM_153824.3:c.616G>T	NP_722546.1:p.Gly206Trp
NM_001282280.2:c.616G>T	NP_001269209.1:p.Gly206Trp
NM_001330523.2:c.616G>T	NP_001317452.1:p.Gly206Trp