Canonical Allele Identifier: CA368185369

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506329-T-G
• MyVariant Identifiers: chr7:g.92135643T>G (hg19) ; chr7:g.92506329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506329T>G , CM000669.2:g.92506329T>G	GRCh38
NC_000007.13:g.92135643T>G , CM000669.1:g.92135643T>G	GRCh37
NC_000007.12:g.91973579T>G	NCBI36
NG_008341.1:g.27203A>C
NG_008341.2:g.27203A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1819A>C MANE Select	ENSP00000248633.4:p.Thr607Pro
ENST00000248633.8:c.1819A>C	ENSP00000248633.4:p.Thr607Pro
ENST00000422866.1:c.637A>C
ENST00000428214.5:c.1819A>C	ENSP00000394413.1:p.Thr607Pro
ENST00000438045.5:c.853A>C	ENSP00000410438.1:p.Thr285Pro
ENST00000484913.5:n.1858A>C
ENST00000496420.5:n.1495A>C
NM_000466.2:c.1819A>C	NP_000457.1:p.Thr607Pro
NM_001282677.1:c.1819A>C	NP_001269606.1:p.Thr607Pro
NM_001282678.1:c.1195A>C	NP_001269607.1:p.Thr399Pro
XM_005250433.3:c.70A>C	XP_005250490.1:p.Thr24Pro
XR_242246.3:n.1915A>C
XM_017012319.2:c.70A>C	XP_016867808.1:p.Thr24Pro
XR_001744808.2:n.846A>C
XR_242246.5:n.1866A>C
NM_000466.3:c.1819A>C MANE Select	NP_000457.1:p.Thr607Pro
NM_001282677.2:c.1819A>C	NP_001269606.1:p.Thr607Pro
NM_001282678.2:c.1195A>C	NP_001269607.1:p.Thr399Pro