Canonical Allele Identifier: CA450366062

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1648083
• ClinVar RCV Id: RCV002160767
• dbSNP Id: rs2114247608
• MyVariant Identifiers: chr6:g.42937486G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969748G>C , CM000668.2:g.42969748G>C	GRCh38
NC_000006.11:g.42937486G>C , CM000668.1:g.42937486G>C	GRCh37
NC_000006.10:g.43045464G>C	NCBI36
NG_008370.1:g.14496C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1287C>G MANE Select	ENSP00000303511.8:p.Leu429=
ENST00000244546.4:c.1287C>G	ENSP00000244546.4:p.Leu429=
ENST00000304611.12:c.1287C>G	ENSP00000303511.8:p.Leu429=
NM_000287.3:c.1287C>G	NP_000278.3:p.Leu429=
NM_001316313.1:c.1023C>G	NP_001303242.1:p.Leu341=
NR_133009.1:n.1380C>G
XM_011514661.1:c.1203C>G	XP_011512963.1:p.Leu401=
XR_926246.1:n.1380C>G
XM_011514661.2:c.1203C>G	XP_011512963.1:p.Leu401=
XR_001743466.2:n.2361C>G
NM_000287.4:c.1287C>G MANE Select	NP_000278.3:p.Leu429=
NM_001316313.2:c.1023C>G	NP_001303242.1:p.Leu341=
NR_133009.2:n.1318C>G