Canonical Allele Identifier: CA401537052

Gene: PYCR1

Linked Data

• MyVariant Identifiers: chr17:g.79892262T>G (hg19) ; chr17:g.81934386T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81934386T>G , CM000679.2:g.81934386T>G	GRCh38
NC_000017.10:g.79892262T>G , CM000679.1:g.79892262T>G	GRCh37
NC_000017.9:g.77485553T>G	NCBI36
NG_023032.1:g.7707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.737A>C MANE Select	ENSP00000328858.8:p.Glu246Ala
ENST00000329875.12:c.737A>C	ENSP00000328858.8:p.Glu246Ala
ENST00000337943.9:c.737A>C	ENSP00000336579.5:p.Glu246Ala
ENST00000402252.6:c.818A>C	ENSP00000384949.2:p.Glu273Ala
ENST00000403172.8:c.644A>C	ENSP00000385483.4:p.Glu215Ala
ENST00000405481.8:c.737A>C	ENSP00000386002.4:p.Glu246Ala
ENST00000577756.5:c.633+267A>C	ENSP00000463352.1:n.633+267A>C
ENST00000582198.5:c.647A>C	ENSP00000463226.1:p.Glu216Ala
ENST00000584848.5:c.501+540A>C	ENSP00000463342.1:n.501+540A>C
ENST00000619204.4:c.737A>C	ENSP00000479793.1:p.Glu246Ala
ENST00000629768.2:c.633+267A>C	ENSP00000485679.1:n.633+267A>C
NM_001282279.1:c.644A>C	NP_001269208.1:p.Glu215Ala
NM_001282280.1:c.737A>C	NP_001269209.1:p.Glu246Ala
NM_001282281.1:c.818A>C	NP_001269210.1:p.Glu273Ala
NM_006907.3:c.737A>C	NP_008838.2:p.Glu246Ala
NM_153824.2:c.737A>C	NP_722546.1:p.Glu246Ala
XM_005256381.1:c.737A>C	XP_005256438.1:p.Glu246Ala
XM_011523583.1:c.737A>C	XP_011521885.1:p.Glu246Ala
XM_011523584.1:c.737A>C	XP_011521886.1:p.Glu246Ala
XM_011523585.1:c.714+267A>C	XP_011521887.1:n.714+267A>C
NM_001330523.1:c.633+267A>C	NP_001317452.1:n.633+267A>C
XM_005256381.2:c.737A>C	XP_005256438.1:p.Glu246Ala
XM_011523583.2:c.737A>C	XP_011521885.1:p.Glu246Ala
XM_011523584.3:c.737A>C	XP_011521886.1:p.Glu246Ala
XM_011523585.2:c.714+267A>C	XP_011521887.1:n.714+267A>C
XM_024450849.1:c.737A>C	XP_024306617.1:p.Glu246Ala
NM_001282279.2:c.644A>C	NP_001269208.1:p.Glu215Ala
NM_001282281.2:c.818A>C	NP_001269210.1:p.Glu273Ala
NM_006907.4:c.737A>C MANE Select	NP_008838.2:p.Glu246Ala
NM_153824.3:c.737A>C	NP_722546.1:p.Glu246Ala
NM_001282280.2:c.737A>C	NP_001269209.1:p.Glu246Ala
NM_001330523.2:c.633+267A>C	NP_001317452.1:n.633+267A>C