Canonical Allele Identifier: CA8845386

Gene: PYCR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81934727C>T , CM000679.2:g.81934727C>T	GRCh38
NC_000017.10:g.79892603C>T , CM000679.1:g.79892603C>T	GRCh37
NC_000017.9:g.77485894C>T	NCBI36
NG_023032.1:g.7366G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006907.4:c.559G>A MANE Select	NP_008838.2:p.Ala187Thr
ENST00000329875.13:c.559G>A MANE Select	ENSP00000328858.8:p.Ala187Thr
NM_001282279.1:c.540+199G>A	NP_001269208.1:n.540+199G>A
NM_001282279.2:c.540+199G>A	NP_001269208.1:n.540+199G>A
NM_001282280.1:c.559G>A	NP_001269209.1:p.Ala187Thr
NM_001282280.2:c.559G>A	NP_001269209.1:p.Ala187Thr
NM_001282281.1:c.640G>A	NP_001269210.1:p.Ala214Thr
NM_001282281.2:c.640G>A	NP_001269210.1:p.Ala214Thr
NM_001330523.1:c.559G>A	NP_001317452.1:p.Ala187Thr
NM_001330523.2:c.559G>A	NP_001317452.1:p.Ala187Thr
NM_006907.3:c.559G>A	NP_008838.2:p.Ala187Thr
NM_153824.2:c.559G>A	NP_722546.1:p.Ala187Thr
NM_153824.3:c.559G>A	NP_722546.1:p.Ala187Thr
ENST00000329875.12:c.559G>A	ENSP00000328858.8:p.Ala187Thr
ENST00000337943.9:c.559G>A	ENSP00000336579.5:p.Ala187Thr
ENST00000402252.6:c.640G>A	ENSP00000384949.2:p.Ala214Thr
ENST00000403172.8:c.540+199G>A	ENSP00000385483.4:n.540+199G>A
ENST00000405481.8:c.559G>A	ENSP00000386002.4:p.Ala187Thr
ENST00000577624.5:c.376G>A	ENSP00000464098.1:p.Ala126Thr
ENST00000577756.5:c.559G>A	ENSP00000463352.1:p.Ala187Thr
ENST00000582198.5:c.469G>A	ENSP00000463226.1:p.Ala157Thr
ENST00000584848.5:c.501+199G>A	ENSP00000463342.1:n.501+199G>A
ENST00000585215.5:c.559G>A	ENSP00000463343.1:p.Ala187Thr
ENST00000619204.4:c.559G>A	ENSP00000479793.1:p.Ala187Thr
ENST00000629768.2:c.559G>A	ENSP00000485679.1:p.Ala187Thr
XM_005256381.1:c.559G>A	XP_005256438.1:p.Ala187Thr
XM_005256381.2:c.559G>A	XP_005256438.1:p.Ala187Thr
XM_011523583.1:c.559G>A	XP_011521885.1:p.Ala187Thr
XM_011523583.2:c.559G>A	XP_011521885.1:p.Ala187Thr
XM_011523584.1:c.559G>A	XP_011521886.1:p.Ala187Thr
XM_011523584.3:c.559G>A	XP_011521886.1:p.Ala187Thr
XM_011523585.1:c.640G>A	XP_011521887.1:p.Ala214Thr
XM_011523585.2:c.640G>A	XP_011521887.1:p.Ala214Thr
XM_024450849.1:c.559G>A	XP_024306617.1:p.Ala187Thr