Canonical Allele Identifier: CA366456132

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771138T>G (hg19) ; chr6:g.161350106T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350106T>G , CM000668.2:g.161350106T>G	GRCh38
NC_000006.11:g.161771138T>G , CM000668.1:g.161771138T>G	GRCh37
NC_000006.10:g.161691128T>G	NCBI36
NG_008289.1:g.1382697A>C
NG_008289.2:g.1382697A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1269A>C	ENSP00000343589.4:n.1269A>C
ENST00000366894.6:c.1150A>C	ENSP00000355860.2:n.1150A>C
ENST00000366898.6:c.1391A>C MANE Select	ENSP00000355865.1:p.Asp464Ala
ENST00000673871.1:c.1472A>C
ENST00000674006.1:n.776A>C
ENST00000674436.1:n.1027A>C
ENST00000338468.7:c.818A>C	ENSP00000343589.3:p.Asp273Ala
ENST00000366894.5:c.818A>C	ENSP00000355860.1:p.Asp273Ala
ENST00000366896.5:c.944A>C	ENSP00000355862.1:p.Asp315Ala
ENST00000366897.5:c.1307A>C	ENSP00000355863.1:p.Asp436Ala
ENST00000366898.5:c.1391A>C	ENSP00000355865.1:p.Asp464Ala
ENST00000479615.5:c.*167A>C	ENSP00000434414.1:n.*167A>C
ENST00000610470.4:c.524A>C	ENSP00000483773.1:p.Asp175Ala
NM_004562.2:c.1391A>C	NP_004553.2:p.Asp464Ala
NM_013987.2:c.1307A>C	NP_054642.2:p.Asp436Ala
NM_013988.2:c.944A>C	NP_054643.2:p.Asp315Ala
XM_011535863.1:c.1388A>C	XP_011534165.1:p.Asp463Ala
XM_017010908.1:c.1505A>C	XP_016866397.1:p.Asp502Ala
XM_017010909.2:c.1151A>C	XP_016866398.1:p.Asp384Ala
XM_024446449.1:c.1154A>C	XP_024302217.1:p.Asp385Ala
XR_001743443.2:n.1583A>C
NM_004562.3:c.1391A>C MANE Select	NP_004553.2:p.Asp464Ala
NM_013987.3:c.1307A>C	NP_054642.2:p.Asp436Ala
NM_013988.3:c.944A>C	NP_054643.2:p.Asp315Ala