Canonical Allele Identifier: CA401536546

Gene: PYCR1

Linked Data

• gnomAD v4: 17-81933290-G-A
• MyVariant Identifiers: chr17:g.79891166G>A (hg19) ; chr17:g.81933290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933290G>A , CM000679.2:g.81933290G>A	GRCh38
NC_000017.10:g.79891166G>A , CM000679.1:g.79891166G>A	GRCh37
NC_000017.9:g.77484457G>A	NCBI36
NG_023032.1:g.8803C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329875.13:c.884C>T MANE Select	ENSP00000328858.8:p.Pro295Leu
ENST00000329875.12:c.884C>T	ENSP00000328858.8:p.Pro295Leu
ENST00000337943.9:c.867+17C>T	ENSP00000336579.5:n.867+17C>T
ENST00000402252.6:c.965C>T	ENSP00000384949.2:p.Pro322Leu
ENST00000403172.8:c.791C>T	ENSP00000385483.4:p.Pro264Leu
ENST00000577756.5:c.*66C>T	ENSP00000463352.1:n.*66C>T
ENST00000584848.5:c.588C>T	ENSP00000463342.1:n.588C>T
ENST00000619204.4:c.884C>T	ENSP00000479793.1:p.Pro295Leu
ENST00000629768.2:c.*66C>T	ENSP00000485679.1:n.*66C>T
NM_001282279.1:c.791C>T	NP_001269208.1:p.Pro264Leu
NM_001282280.1:c.884C>T	NP_001269209.1:p.Pro295Leu
NM_001282281.1:c.965C>T	NP_001269210.1:p.Pro322Leu
NM_006907.3:c.884C>T	NP_008838.2:p.Pro295Leu
NM_153824.2:c.867+17C>T	NP_722546.1:n.867+17C>T
XM_005256381.1:c.884C>T	XP_005256438.1:p.Pro295Leu
XM_011523583.1:c.884C>T	XP_011521885.1:p.Pro295Leu
XM_011523584.1:c.884C>T	XP_011521886.1:p.Pro295Leu
XM_011523585.1:c.*66C>T	XP_011521887.1:n.*66C>T
NM_001330523.1:c.*66C>T	NP_001317452.1:n.*66C>T
XM_005256381.2:c.884C>T	XP_005256438.1:p.Pro295Leu
XM_011523583.2:c.884C>T	XP_011521885.1:p.Pro295Leu
XM_011523584.3:c.884C>T	XP_011521886.1:p.Pro295Leu
XM_011523585.2:c.*66C>T	XP_011521887.1:n.*66C>T
XM_024450849.1:c.884C>T	XP_024306617.1:p.Pro295Leu
NM_001282279.2:c.791C>T	NP_001269208.1:p.Pro264Leu
NM_001282281.2:c.965C>T	NP_001269210.1:p.Pro322Leu
NM_006907.4:c.884C>T MANE Select	NP_008838.2:p.Pro295Leu
NM_153824.3:c.867+17C>T	NP_722546.1:n.867+17C>T
NM_001282280.2:c.884C>T	NP_001269209.1:p.Pro295Leu
NM_001330523.2:c.*66C>T	NP_001317452.1:n.*66C>T