Canonical Allele Identifier: CA8845370

Gene: PYCR1

Linked Data

• ClinVar Variation Id: 325904
• ClinVar RCV Id: RCV000399805 ; RCV000623063 ; RCV001291130 ; RCV001569626
• dbSNP Id: rs144346996
• ExAC: 17:79892528 C / G
• gnomAD v2: 17-79892528-C-G
• gnomAD v3: 17-81934652-C-G
• gnomAD v4: 17-81934652-C-G
• MyVariant Identifiers: chr17:g.79892528C>G (hg19) ; chr17:g.81934652C>G (hg38)
• PubMed: PMID:19576563 ; PMID:19648921 ; PMID:22052856 ; PMID:24035636

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81934652C>G , CM000679.2:g.81934652C>G	GRCh38
NC_000017.10:g.79892528C>G , CM000679.1:g.79892528C>G	GRCh37
NC_000017.9:g.77485819C>G	NCBI36
NG_023032.1:g.7441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.633+1G>C MANE Select	ENSP00000328858.8:n.633+1G>C
ENST00000329875.12:c.633+1G>C	ENSP00000328858.8:n.633+1G>C
ENST00000337943.9:c.633+1G>C	ENSP00000336579.5:n.633+1G>C
ENST00000402252.6:c.714+1G>C	ENSP00000384949.2:n.714+1G>C
ENST00000403172.8:c.541-163G>C	ENSP00000385483.4:n.541-163G>C
ENST00000405481.8:c.633+1G>C	ENSP00000386002.4:n.633+1G>C
ENST00000577756.5:c.633+1G>C	ENSP00000463352.1:n.633+1G>C
ENST00000582198.5:c.543+1G>C	ENSP00000463226.1:n.543+1G>C
ENST00000584848.5:c.501+274G>C	ENSP00000463342.1:n.501+274G>C
ENST00000585215.5:c.633+1G>C	ENSP00000463343.1:n.633+1G>C
ENST00000619204.4:c.633+1G>C	ENSP00000479793.1:n.633+1G>C
ENST00000629768.2:c.633+1G>C	ENSP00000485679.1:n.633+1G>C
NM_001282279.1:c.541-163G>C	NP_001269208.1:n.541-163G>C
NM_001282280.1:c.633+1G>C	NP_001269209.1:n.633+1G>C
NM_001282281.1:c.714+1G>C	NP_001269210.1:n.714+1G>C
NM_006907.3:c.633+1G>C	NP_008838.2:n.633+1G>C
NM_153824.2:c.633+1G>C	NP_722546.1:n.633+1G>C
XM_005256381.1:c.633+1G>C	XP_005256438.1:n.633+1G>C
XM_011523583.1:c.633+1G>C	XP_011521885.1:n.633+1G>C
XM_011523584.1:c.633+1G>C	XP_011521886.1:n.633+1G>C
XM_011523585.1:c.714+1G>C	XP_011521887.1:n.714+1G>C
NM_001330523.1:c.633+1G>C	NP_001317452.1:n.633+1G>C
XM_005256381.2:c.633+1G>C	XP_005256438.1:n.633+1G>C
XM_011523583.2:c.633+1G>C	XP_011521885.1:n.633+1G>C
XM_011523584.3:c.633+1G>C	XP_011521886.1:n.633+1G>C
XM_011523585.2:c.714+1G>C	XP_011521887.1:n.714+1G>C
XM_024450849.1:c.633+1G>C	XP_024306617.1:n.633+1G>C
NM_001282279.2:c.541-163G>C	NP_001269208.1:n.541-163G>C
NM_001282281.2:c.714+1G>C	NP_001269210.1:n.714+1G>C
NM_006907.4:c.633+1G>C MANE Select	NP_008838.2:n.633+1G>C
NM_153824.3:c.633+1G>C	NP_722546.1:n.633+1G>C
NM_001282280.2:c.633+1G>C	NP_001269209.1:n.633+1G>C
NM_001330523.2:c.633+1G>C	NP_001317452.1:n.633+1G>C