Canonical Allele Identifier: CA368184608

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135573T>G (hg19) ; chr7:g.92506259T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506259T>G , CM000669.2:g.92506259T>G	GRCh38
NC_000007.13:g.92135573T>G , CM000669.1:g.92135573T>G	GRCh37
NC_000007.12:g.91973509T>G	NCBI36
NG_008341.1:g.27273A>C
NG_008341.2:g.27273A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1889A>C MANE Select	ENSP00000248633.4:p.Lys630Thr
ENST00000248633.8:c.1889A>C	ENSP00000248633.4:p.Lys630Thr
ENST00000422866.1:c.707A>C
ENST00000428214.5:c.1889A>C	ENSP00000394413.1:p.Lys630Thr
ENST00000438045.5:c.923A>C	ENSP00000410438.1:p.Lys308Thr
ENST00000484913.5:n.1928A>C
ENST00000496420.5:n.1565A>C
NM_000466.2:c.1889A>C	NP_000457.1:p.Lys630Thr
NM_001282677.1:c.1889A>C	NP_001269606.1:p.Lys630Thr
NM_001282678.1:c.1265A>C	NP_001269607.1:p.Lys422Thr
XM_005250433.3:c.140A>C	XP_005250490.1:p.Lys47Thr
XR_242246.3:n.1985A>C
XM_017012319.2:c.140A>C	XP_016867808.1:p.Lys47Thr
XR_001744808.2:n.916A>C
XR_242246.5:n.1936A>C
NM_000466.3:c.1889A>C MANE Select	NP_000457.1:p.Lys630Thr
NM_001282677.2:c.1889A>C	NP_001269606.1:p.Lys630Thr
NM_001282678.2:c.1265A>C	NP_001269607.1:p.Lys422Thr