Canonical Allele Identifier: CA338167208

Gene: PARK7

Linked Data

• MyVariant Identifiers: chr1:g.8045058C>A (hg19) ; chr1:g.7984998C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984998C>A , CM000663.2:g.7984998C>A	GRCh38
NC_000001.10:g.8045058C>A , CM000663.1:g.8045058C>A	GRCh37
NC_000001.9:g.7967645C>A	NCBI36
NG_008271.1:g.28345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.514C>A MANE Select	ENSP00000340278.5:p.Leu172Met
ENST00000338639.9:c.514C>A	ENSP00000340278.5:p.Leu172Met
ENST00000377488.5:c.514C>A	ENSP00000366708.1:p.Leu172Met
ENST00000377491.5:c.514C>A	ENSP00000366711.1:p.Leu172Met
ENST00000377493.9:c.454C>A	ENSP00000466242.1:p.Leu152Met
ENST00000469225.1:c.427C>A	ENSP00000466756.1:p.Leu143Met
ENST00000493373.5:c.514C>A	ENSP00000465404.1:p.Leu172Met
ENST00000493678.5:c.514C>A	ENSP00000418770.1:p.Leu172Met
NM_001123377.1:c.514C>A	NP_001116849.1:p.Leu172Met
NM_007262.4:c.514C>A	NP_009193.2:p.Leu172Met
XM_005263424.2:c.514C>A	XP_005263481.1:p.Leu172Met
XM_005263424.3:c.514C>A	XP_005263481.1:p.Leu172Met
NM_007262.5:c.514C>A MANE Select	NP_009193.2:p.Leu172Met
NM_001123377.2:c.514C>A	NP_001116849.1:p.Leu172Met