Canonical Allele Identifier: CA17286800

Gene: PARK7

Linked Data

• dbSNP Id: rs917327201
• gnomAD v4: 1-7984730-T-G
• MyVariant Identifiers: chr1:g.8044790T>G (hg19) ; chr1:g.7984730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984730T>G , CM000663.2:g.7984730T>G	GRCh38
NC_000001.10:g.8044790T>G , CM000663.1:g.8044790T>G	GRCh37
NC_000001.9:g.7967377T>G	NCBI36
NG_008271.1:g.28077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.410-164T>G MANE Select	ENSP00000340278.5:n.410-164T>G
ENST00000338639.9:c.410-164T>G	ENSP00000340278.5:n.410-164T>G
ENST00000377488.5:c.410-164T>G	ENSP00000366708.1:n.410-164T>G
ENST00000377491.5:c.410-164T>G	ENSP00000366711.1:n.410-164T>G
ENST00000377493.9:c.350-164T>G	ENSP00000466242.1:n.350-164T>G
ENST00000469225.1:c.293-134T>G	ENSP00000466756.1:n.293-134T>G
ENST00000493373.5:c.410-164T>G	ENSP00000465404.1:n.410-164T>G
ENST00000493678.5:c.410-164T>G	ENSP00000418770.1:n.410-164T>G
NM_001123377.1:c.410-164T>G	NP_001116849.1:n.410-164T>G
NM_007262.4:c.410-164T>G	NP_009193.2:n.410-164T>G
XM_005263424.2:c.410-164T>G	XP_005263481.1:n.410-164T>G
XM_005263424.3:c.410-164T>G	XP_005263481.1:n.410-164T>G
NM_007262.5:c.410-164T>G MANE Select	NP_009193.2:n.410-164T>G
NM_001123377.2:c.410-164T>G	NP_001116849.1:n.410-164T>G