Canonical Allele Identifier: CA368177784

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501985T>G , CM000669.2:g.92501985T>G	GRCh38
NC_000007.13:g.92131299T>G , CM000669.1:g.92131299T>G	GRCh37
NC_000007.12:g.91969235T>G	NCBI36
NG_008341.1:g.31547A>C
NG_008341.2:g.31547A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2321A>C MANE Select	ENSP00000248633.4:p.Lys774Thr
ENST00000248633.8:c.2321A>C	ENSP00000248633.4:p.Lys774Thr
ENST00000428214.5:c.2150A>C	ENSP00000394413.1:p.Lys717Thr
ENST00000438045.5:c.1355A>C	ENSP00000410438.1:p.Lys452Thr
ENST00000484913.5:n.2360A>C
ENST00000496092.1:n.119A>C
ENST00000496420.5:n.1997A>C
NM_000466.2:c.2321A>C	NP_000457.1:p.Lys774Thr
NM_001282677.1:c.2150A>C	NP_001269606.1:p.Lys717Thr
NM_001282678.1:c.1697A>C	NP_001269607.1:p.Lys566Thr
XM_005250433.3:c.572A>C	XP_005250490.1:p.Lys191Thr
XR_242246.3:n.2417A>C
XM_017012319.2:c.572A>C	XP_016867808.1:p.Lys191Thr
XR_001744808.2:n.1348A>C
XR_242246.5:n.2368A>C
NM_000466.3:c.2321A>C MANE Select	NP_000457.1:p.Lys774Thr
NM_001282677.2:c.2150A>C	NP_001269606.1:p.Lys717Thr
NM_001282678.2:c.1697A>C	NP_001269607.1:p.Lys566Thr