Canonical Allele Identifier: CA401537073

Gene: PYCR1

Linked Data

• MyVariant Identifiers: chr17:g.79892271T>G (hg19) ; chr17:g.81934395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81934395T>G , CM000679.2:g.81934395T>G	GRCh38
NC_000017.10:g.79892271T>G , CM000679.1:g.79892271T>G	GRCh37
NC_000017.9:g.77485562T>G	NCBI36
NG_023032.1:g.7698A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.728A>C MANE Select	ENSP00000328858.8:p.His243Pro
ENST00000329875.12:c.728A>C	ENSP00000328858.8:p.His243Pro
ENST00000337943.9:c.728A>C	ENSP00000336579.5:p.His243Pro
ENST00000402252.6:c.809A>C	ENSP00000384949.2:p.His270Pro
ENST00000403172.8:c.635A>C	ENSP00000385483.4:p.His212Pro
ENST00000405481.8:c.728A>C	ENSP00000386002.4:p.His243Pro
ENST00000577756.5:c.633+258A>C	ENSP00000463352.1:n.633+258A>C
ENST00000582198.5:c.638A>C	ENSP00000463226.1:p.His213Pro
ENST00000584848.5:c.501+531A>C	ENSP00000463342.1:n.501+531A>C
ENST00000619204.4:c.728A>C	ENSP00000479793.1:p.His243Pro
ENST00000629768.2:c.633+258A>C	ENSP00000485679.1:n.633+258A>C
NM_001282279.1:c.635A>C	NP_001269208.1:p.His212Pro
NM_001282280.1:c.728A>C	NP_001269209.1:p.His243Pro
NM_001282281.1:c.809A>C	NP_001269210.1:p.His270Pro
NM_006907.3:c.728A>C	NP_008838.2:p.His243Pro
NM_153824.2:c.728A>C	NP_722546.1:p.His243Pro
XM_005256381.1:c.728A>C	XP_005256438.1:p.His243Pro
XM_011523583.1:c.728A>C	XP_011521885.1:p.His243Pro
XM_011523584.1:c.728A>C	XP_011521886.1:p.His243Pro
XM_011523585.1:c.714+258A>C	XP_011521887.1:n.714+258A>C
NM_001330523.1:c.633+258A>C	NP_001317452.1:n.633+258A>C
XM_005256381.2:c.728A>C	XP_005256438.1:p.His243Pro
XM_011523583.2:c.728A>C	XP_011521885.1:p.His243Pro
XM_011523584.3:c.728A>C	XP_011521886.1:p.His243Pro
XM_011523585.2:c.714+258A>C	XP_011521887.1:n.714+258A>C
XM_024450849.1:c.728A>C	XP_024306617.1:p.His243Pro
NM_001282279.2:c.635A>C	NP_001269208.1:p.His212Pro
NM_001282281.2:c.809A>C	NP_001269210.1:p.His270Pro
NM_006907.4:c.728A>C MANE Select	NP_008838.2:p.His243Pro
NM_153824.3:c.728A>C	NP_722546.1:p.His243Pro
NM_001282280.2:c.728A>C	NP_001269209.1:p.His243Pro
NM_001330523.2:c.633+258A>C	NP_001317452.1:n.633+258A>C