Canonical Allele Identifier: CA8845229

Gene: PYCR1

Linked Data

• dbSNP Id: rs772932462
• ExAC: 17:79891117 G / GC
• gnomAD v2: 17-79891117-G-GC
• gnomAD v4: 17-81933241-G-GC
• MyVariant Identifiers: chr17:g.79891117_79891118insC (hg19) ; chr17:g.81933241_81933242insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933242dup , CM000679.2:g.81933242dup	GRCh38
NC_000017.10:g.79891118dup , CM000679.1:g.79891118dup	GRCh37
NC_000017.9:g.77484409dup	NCBI36
NG_023032.1:g.8851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.932dup MANE Select	ENSP00000328858.8:p.Ser312GlnfsTer14
ENST00000329875.12:c.932dup	ENSP00000328858.8:p.Ser312GlnfsTer14
ENST00000337943.9:c.867+65dup	ENSP00000336579.5:n.867+65dup
ENST00000402252.6:c.1013dup	ENSP00000384949.2:p.Ser339GlnfsTer14
ENST00000403172.8:c.839dup	ENSP00000385483.4:p.Ser281GlnfsTer14
ENST00000577756.5:c.*114dup	ENSP00000463352.1:n.*114dup
ENST00000584848.5:c.636dup	ENSP00000463342.1:n.636dup
ENST00000619204.4:c.932dup	ENSP00000479793.1:p.Ser312GlnfsTer14
ENST00000629768.2:c.*114dup	ENSP00000485679.1:n.*114dup
NM_001282279.1:c.839dup	NP_001269208.1:p.Ser281GlnfsTer14
NM_001282280.1:c.932dup	NP_001269209.1:p.Ser312GlnfsTer14
NM_001282281.1:c.1013dup	NP_001269210.1:p.Ser339GlnfsTer14
NM_006907.3:c.932dup	NP_008838.2:p.Ser312GlnfsTer14
NM_153824.2:c.867+65dup	NP_722546.1:n.867+65dup
XM_005256381.1:c.932dup	XP_005256438.1:p.Ser312GlnfsTer14
XM_011523583.1:c.932dup	XP_011521885.1:p.Ser312GlnfsTer14
XM_011523584.1:c.932dup	XP_011521886.1:p.Ser312GlnfsTer14
XM_011523585.1:c.*114dup	XP_011521887.1:n.*114dup
NM_001330523.1:c.*114dup	NP_001317452.1:n.*114dup
XM_005256381.2:c.932dup	XP_005256438.1:p.Ser312GlnfsTer14
XM_011523583.2:c.932dup	XP_011521885.1:p.Ser312GlnfsTer14
XM_011523584.3:c.932dup	XP_011521886.1:p.Ser312GlnfsTer14
XM_011523585.2:c.*114dup	XP_011521887.1:n.*114dup
XM_024450849.1:c.932dup	XP_024306617.1:p.Ser312GlnfsTer14
NM_001282279.2:c.839dup	NP_001269208.1:p.Ser281GlnfsTer14
NM_001282281.2:c.1013dup	NP_001269210.1:p.Ser339GlnfsTer14
NM_006907.4:c.932dup MANE Select	NP_008838.2:p.Ser312GlnfsTer14
NM_153824.3:c.867+65dup	NP_722546.1:n.867+65dup
NM_001282280.2:c.932dup	NP_001269209.1:p.Ser312GlnfsTer14
NM_001330523.2:c.*114dup	NP_001317452.1:n.*114dup