Canonical Allele Identifier: CA368177821

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131300T>A (hg19) ; chr7:g.92501986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501986T>A , CM000669.2:g.92501986T>A	GRCh38
NC_000007.13:g.92131300T>A , CM000669.1:g.92131300T>A	GRCh37
NC_000007.12:g.91969236T>A	NCBI36
NG_008341.1:g.31546A>T
NG_008341.2:g.31546A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2320A>T MANE Select	ENSP00000248633.4:p.Lys774Ter
ENST00000248633.8:c.2320A>T	ENSP00000248633.4:p.Lys774Ter
ENST00000428214.5:c.2149A>T	ENSP00000394413.1:p.Lys717Ter
ENST00000438045.5:c.1354A>T	ENSP00000410438.1:p.Lys452Ter
ENST00000484913.5:n.2359A>T
ENST00000496092.1:n.118A>T
ENST00000496420.5:n.1996A>T
NM_000466.2:c.2320A>T	NP_000457.1:p.Lys774Ter
NM_001282677.1:c.2149A>T	NP_001269606.1:p.Lys717Ter
NM_001282678.1:c.1696A>T	NP_001269607.1:p.Lys566Ter
XM_005250433.3:c.571A>T	XP_005250490.1:p.Lys191Ter
XR_242246.3:n.2416A>T
XM_017012319.2:c.571A>T	XP_016867808.1:p.Lys191Ter
XR_001744808.2:n.1347A>T
XR_242246.5:n.2367A>T
NM_000466.3:c.2320A>T MANE Select	NP_000457.1:p.Lys774Ter
NM_001282677.2:c.2149A>T	NP_001269606.1:p.Lys717Ter
NM_001282678.2:c.1696A>T	NP_001269607.1:p.Lys566Ter