Canonical Allele Identifier: CA338164712

Gene: PARK7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7965366C>T , CM000663.2:g.7965366C>T	GRCh38
NC_000001.10:g.8025426C>T , CM000663.1:g.8025426C>T	GRCh37
NC_000001.9:g.7948013C>T	NCBI36
NG_008271.1:g.8713C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007262.5:c.133C>T MANE Select	NP_009193.2:p.Gln45Ter
ENST00000338639.10:c.133C>T MANE Select	ENSP00000340278.5:p.Gln45Ter
NM_001123377.1:c.133C>T	NP_001116849.1:p.Gln45Ter
NM_001123377.2:c.133C>T	NP_001116849.1:p.Gln45Ter
NM_007262.4:c.133C>T	NP_009193.2:p.Gln45Ter
ENST00000338639.9:c.133C>T	ENSP00000340278.5:p.Gln45Ter
ENST00000377488.5:c.133C>T	ENSP00000366708.1:p.Gln45Ter
ENST00000377491.5:c.133C>T	ENSP00000366711.1:p.Gln45Ter
ENST00000377493.9:c.133C>T	ENSP00000466242.1:p.Gln45Ter
ENST00000460192.5:n.229C>T
ENST00000465354.5:n.202C>T
ENST00000469225.1:c.16C>T	ENSP00000466756.1:p.Gln6Ter
ENST00000493373.5:c.133C>T	ENSP00000465404.1:p.Gln45Ter
ENST00000493678.5:c.133C>T	ENSP00000418770.1:p.Gln45Ter
ENST00000497113.1:n.152C>T
XM_005263424.2:c.133C>T	XP_005263481.1:p.Gln45Ter
XM_005263424.3:c.133C>T	XP_005263481.1:p.Gln45Ter