Canonical Allele Identifier: CA520792776

Gene: PARK7

Linked Data

• dbSNP Id: rs1427811261
• gnomAD v2: 1-8045246-T-C
• gnomAD v3: 1-7985186-T-C
• gnomAD v4: 1-7985186-T-C
• MyVariant Identifiers: chr1:g.8045246T>C (hg19) ; chr1:g.7985186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985186T>C , CM000663.2:g.7985186T>C	GRCh38
NC_000001.10:g.8045246T>C , CM000663.1:g.8045246T>C	GRCh37
NC_000001.9:g.7967833T>C	NCBI36
NG_008271.1:g.28533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*132T>C MANE Select	ENSP00000340278.5:n.*132T>C
ENST00000338639.9:c.*132T>C	ENSP00000340278.5:n.*132T>C
ENST00000377491.5:c.*132T>C	ENSP00000366711.1:n.*132T>C
ENST00000377493.9:c.*132T>C	ENSP00000466242.1:n.*132T>C
ENST00000469225.1:c.615T>C	ENSP00000466756.1:n.615T>C
ENST00000493678.5:c.*132T>C	ENSP00000418770.1:n.*132T>C
NM_001123377.1:c.*132T>C	NP_001116849.1:n.*132T>C
NM_007262.4:c.*132T>C	NP_009193.2:n.*132T>C
XM_005263424.2:c.*132T>C	XP_005263481.1:n.*132T>C
XM_005263424.3:c.*132T>C	XP_005263481.1:n.*132T>C
NM_007262.5:c.*132T>C MANE Select	NP_009193.2:n.*132T>C
NM_001123377.2:c.*132T>C	NP_001116849.1:n.*132T>C