Canonical Allele Identifier: CA401536458

Gene: PYCR1

Linked Data

• gnomAD v4: 17-81933257-G-C
• MyVariant Identifiers: chr17:g.79891133G>C (hg19) ; chr17:g.81933257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933257G>C , CM000679.2:g.81933257G>C	GRCh38
NC_000017.10:g.79891133G>C , CM000679.1:g.79891133G>C	GRCh37
NC_000017.9:g.77484424G>C	NCBI36
NG_023032.1:g.8836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.917C>G MANE Select	ENSP00000328858.8:p.Thr306Ser
ENST00000329875.12:c.917C>G	ENSP00000328858.8:p.Thr306Ser
ENST00000337943.9:c.867+50C>G	ENSP00000336579.5:n.867+50C>G
ENST00000402252.6:c.998C>G	ENSP00000384949.2:p.Thr333Ser
ENST00000403172.8:c.824C>G	ENSP00000385483.4:p.Thr275Ser
ENST00000577756.5:c.*99C>G	ENSP00000463352.1:n.*99C>G
ENST00000584848.5:c.621C>G	ENSP00000463342.1:n.621C>G
ENST00000619204.4:c.917C>G	ENSP00000479793.1:p.Thr306Ser
ENST00000629768.2:c.*99C>G	ENSP00000485679.1:n.*99C>G
NM_001282279.1:c.824C>G	NP_001269208.1:p.Thr275Ser
NM_001282280.1:c.917C>G	NP_001269209.1:p.Thr306Ser
NM_001282281.1:c.998C>G	NP_001269210.1:p.Thr333Ser
NM_006907.3:c.917C>G	NP_008838.2:p.Thr306Ser
NM_153824.2:c.867+50C>G	NP_722546.1:n.867+50C>G
XM_005256381.1:c.917C>G	XP_005256438.1:p.Thr306Ser
XM_011523583.1:c.917C>G	XP_011521885.1:p.Thr306Ser
XM_011523584.1:c.917C>G	XP_011521886.1:p.Thr306Ser
XM_011523585.1:c.*99C>G	XP_011521887.1:n.*99C>G
NM_001330523.1:c.*99C>G	NP_001317452.1:n.*99C>G
XM_005256381.2:c.917C>G	XP_005256438.1:p.Thr306Ser
XM_011523583.2:c.917C>G	XP_011521885.1:p.Thr306Ser
XM_011523584.3:c.917C>G	XP_011521886.1:p.Thr306Ser
XM_011523585.2:c.*99C>G	XP_011521887.1:n.*99C>G
XM_024450849.1:c.917C>G	XP_024306617.1:p.Thr306Ser
NM_001282279.2:c.824C>G	NP_001269208.1:p.Thr275Ser
NM_001282281.2:c.998C>G	NP_001269210.1:p.Thr333Ser
NM_006907.4:c.917C>G MANE Select	NP_008838.2:p.Thr306Ser
NM_153824.3:c.867+50C>G	NP_722546.1:n.867+50C>G
NM_001282280.2:c.917C>G	NP_001269209.1:p.Thr306Ser
NM_001330523.2:c.*99C>G	NP_001317452.1:n.*99C>G