Canonical Allele Identifier: CA15072929

Gene: PARK7

Linked Data

• ClinVar Variation Id: 1243450
• ClinVar RCV Id: RCV001645611
• dbSNP Id: rs35675666
• gnomAD v2: 1-8021973-G-T
• gnomAD v3: 1-7961913-G-T
• gnomAD v4: 1-7961913-G-T
• MyVariant Identifiers: chr1:g.8021973G>T (hg19) ; chr1:g.7961913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7961913G>T , CM000663.2:g.7961913G>T	GRCh38
NC_000001.10:g.8021973G>T , CM000663.1:g.8021973G>T	GRCh37
NC_000001.9:g.7944560G>T	NCBI36
NG_008271.1:g.5260G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338639.10:c.-24+120G>T MANE Select	ENSP00000340278.5:n.-24+120G>T
ENST00000338639.9:c.-24+120G>T	ENSP00000340278.5:n.-24+120G>T
ENST00000377491.5:c.-192G>T	ENSP00000366711.1:n.-192G>T
ENST00000377493.9:c.-24+178G>T	ENSP00000466242.1:n.-24+178G>T
ENST00000460192.5:n.73+178G>T
ENST00000465354.5:n.46+120G>T
ENST00000493373.5:c.-23-850G>T	ENSP00000465404.1:n.-23-850G>T
ENST00000493678.5:c.-24+178G>T	ENSP00000418770.1:n.-24+178G>T
NM_001123377.1:c.-24+178G>T	NP_001116849.1:n.-24+178G>T
NM_007262.4:c.-24+120G>T	NP_009193.2:n.-24+120G>T
NM_007262.5:c.-24+120G>T MANE Select	NP_009193.2:n.-24+120G>T
NM_001123377.2:c.-24+178G>T	NP_001116849.1:n.-24+178G>T