Canonical Allele Identifier: CA4341279

Gene: PEX1

Linked Data

• dbSNP Id: rs773387835
• ExAC: 7:92135621 T / G
• gnomAD v2: 7-92135621-T-G
• gnomAD v4: 7-92506307-T-G
• MyVariant Identifiers: chr7:g.92135621T>G (hg19) ; chr7:g.92506307T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506307T>G , CM000669.2:g.92506307T>G	GRCh38
NC_000007.13:g.92135621T>G , CM000669.1:g.92135621T>G	GRCh37
NC_000007.12:g.91973557T>G	NCBI36
NG_008341.1:g.27225A>C
NG_008341.2:g.27225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1841A>C MANE Select	ENSP00000248633.4:p.Lys614Thr
ENST00000248633.8:c.1841A>C	ENSP00000248633.4:p.Lys614Thr
ENST00000422866.1:c.659A>C
ENST00000428214.5:c.1841A>C	ENSP00000394413.1:p.Lys614Thr
ENST00000438045.5:c.875A>C	ENSP00000410438.1:p.Lys292Thr
ENST00000484913.5:n.1880A>C
ENST00000496420.5:n.1517A>C
NM_000466.2:c.1841A>C	NP_000457.1:p.Lys614Thr
NM_001282677.1:c.1841A>C	NP_001269606.1:p.Lys614Thr
NM_001282678.1:c.1217A>C	NP_001269607.1:p.Lys406Thr
XM_005250433.3:c.92A>C	XP_005250490.1:p.Lys31Thr
XR_242246.3:n.1937A>C
XM_017012319.2:c.92A>C	XP_016867808.1:p.Lys31Thr
XR_001744808.2:n.868A>C
XR_242246.5:n.1888A>C
NM_000466.3:c.1841A>C MANE Select	NP_000457.1:p.Lys614Thr
NM_001282677.2:c.1841A>C	NP_001269606.1:p.Lys614Thr
NM_001282678.2:c.1217A>C	NP_001269607.1:p.Lys406Thr