Canonical Allele Identifier: CA366456158

Gene: PRKN

Linked Data

• dbSNP Id: rs1305965991
• gnomAD v2: 6-161771148-G-A
• gnomAD v4: 6-161350116-G-A
• MyVariant Identifiers: chr6:g.161771148G>A (hg19) ; chr6:g.161350116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350116G>A , CM000668.2:g.161350116G>A	GRCh38
NC_000006.11:g.161771148G>A , CM000668.1:g.161771148G>A	GRCh37
NC_000006.10:g.161691138G>A	NCBI36
NG_008289.1:g.1382687C>T
NG_008289.2:g.1382687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1259C>T	ENSP00000343589.4:n.1259C>T
ENST00000366894.6:c.1140C>T	ENSP00000355860.2:n.1140C>T
ENST00000366898.6:c.1381C>T MANE Select	ENSP00000355865.1:p.His461Tyr
ENST00000673871.1:c.1462C>T
ENST00000674006.1:n.766C>T
ENST00000674436.1:n.1017C>T
ENST00000338468.7:c.808C>T	ENSP00000343589.3:p.His270Tyr
ENST00000366894.5:c.808C>T	ENSP00000355860.1:p.His270Tyr
ENST00000366896.5:c.934C>T	ENSP00000355862.1:p.His312Tyr
ENST00000366897.5:c.1297C>T	ENSP00000355863.1:p.His433Tyr
ENST00000366898.5:c.1381C>T	ENSP00000355865.1:p.His461Tyr
ENST00000479615.5:c.*157C>T	ENSP00000434414.1:n.*157C>T
ENST00000610470.4:c.514C>T	ENSP00000483773.1:p.His172Tyr
NM_004562.2:c.1381C>T	NP_004553.2:p.His461Tyr
NM_013987.2:c.1297C>T	NP_054642.2:p.His433Tyr
NM_013988.2:c.934C>T	NP_054643.2:p.His312Tyr
XM_011535863.1:c.1378C>T	XP_011534165.1:p.His460Tyr
XM_017010908.1:c.1495C>T	XP_016866397.1:p.His499Tyr
XM_017010909.2:c.1141C>T	XP_016866398.1:p.His381Tyr
XM_024446449.1:c.1144C>T	XP_024302217.1:p.His382Tyr
XR_001743443.2:n.1573C>T
NM_004562.3:c.1381C>T MANE Select	NP_004553.2:p.His461Tyr
NM_013987.3:c.1297C>T	NP_054642.2:p.His433Tyr
NM_013988.3:c.934C>T	NP_054643.2:p.His312Tyr