Canonical Allele Identifier: CA450365910

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2171563
• ClinVar RCV Id: RCV003086978
• dbSNP Id: rs1769989645
• MyVariant Identifiers: chr6:g.42937426C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969688C>A , CM000668.2:g.42969688C>A	GRCh38
NC_000006.11:g.42937426C>A , CM000668.1:g.42937426C>A	GRCh37
NC_000006.10:g.43045404C>A	NCBI36
NG_008370.1:g.14556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1347G>T MANE Select	ENSP00000303511.8:p.Leu449=
ENST00000244546.4:c.1347G>T	ENSP00000244546.4:p.Leu449=
ENST00000304611.12:c.1347G>T	ENSP00000303511.8:p.Leu449=
NM_000287.3:c.1347G>T	NP_000278.3:p.Leu449=
NM_001316313.1:c.1083G>T	NP_001303242.1:p.Leu361=
NR_133009.1:n.1440G>T
XM_011514661.1:c.1263G>T	XP_011512963.1:p.Leu421=
XR_926246.1:n.1440G>T
XM_011514661.2:c.1263G>T	XP_011512963.1:p.Leu421=
XR_001743466.2:n.2421G>T
NM_000287.4:c.1347G>T MANE Select	NP_000278.3:p.Leu449=
NM_001316313.2:c.1083G>T	NP_001303242.1:p.Leu361=
NR_133009.2:n.1378G>T