Canonical Allele Identifier: CA366477322

Gene: PRKN

Linked Data

• dbSNP Id: rs147757966
• gnomAD v2: 6-162864415-C-A
• gnomAD v4: 6-162443383-C-A
• MyVariant Identifiers: chr6:g.162864415C>A (hg19) ; chr6:g.162443383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443383C>A , CM000668.2:g.162443383C>A	GRCh38
NC_000006.11:g.162864415C>A , CM000668.1:g.162864415C>A	GRCh37
NC_000006.10:g.162784405C>A	NCBI36
NG_008289.1:g.289420G>T
NG_008289.2:g.289420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.98G>T	ENSP00000343589.4:p.Arg33Leu
ENST00000366894.6:c.98G>T	ENSP00000355860.2:p.Arg33Leu
ENST00000366898.6:c.98G>T MANE Select	ENSP00000355865.1:p.Arg33Leu
ENST00000648830.1:n.265G>T
ENST00000673871.1:c.93G>T
ENST00000674232.1:n.116G>T
ENST00000674259.1:n.155G>T
ENST00000674493.1:n.115G>T
ENST00000674501.1:n.205G>T
ENST00000338468.7:c.-354G>T	ENSP00000343589.3:n.-354G>T
ENST00000366892.5:c.98G>T	ENSP00000355858.1:p.Arg33Leu
ENST00000366894.5:c.-235G>T	ENSP00000355860.1:n.-235G>T
ENST00000366896.5:c.98G>T	ENSP00000355862.1:p.Arg33Leu
ENST00000366897.5:c.98G>T	ENSP00000355863.1:p.Arg33Leu
ENST00000366898.5:c.98G>T	ENSP00000355865.1:p.Arg33Leu
ENST00000479615.5:c.-66-180618G>T	ENSP00000434414.1:n.-66-180618G>T
NM_004562.2:c.98G>T	NP_004553.2:p.Arg33Leu
NM_013987.2:c.98G>T	NP_054642.2:p.Arg33Leu
NM_013988.2:c.98G>T	NP_054643.2:p.Arg33Leu
XM_011535863.1:c.98G>T	XP_011534165.1:p.Arg33Leu
XM_011535864.1:c.98G>T	XP_011534166.1:p.Arg33Leu
XM_011535865.1:c.98G>T	XP_011534167.1:p.Arg33Leu
XM_011535866.1:c.98G>T	XP_011534168.1:p.Arg33Leu
XM_011535867.1:c.98G>T	XP_011534169.1:p.Arg33Leu
XM_017010908.1:c.212G>T	XP_016866397.1:p.Arg71Leu
XM_017010909.2:c.-66-180618G>T	XP_016866398.1:n.-66-180618G>T
XM_024446449.1:c.-66-180618G>T	XP_024302217.1:n.-66-180618G>T
XR_001743443.2:n.204G>T
NM_004562.3:c.98G>T MANE Select	NP_004553.2:p.Arg33Leu
NM_013987.3:c.98G>T	NP_054642.2:p.Arg33Leu
NM_013988.3:c.98G>T	NP_054643.2:p.Arg33Leu