Canonical Allele Identifier: CA368171207

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126081A>G (hg19) ; chr7:g.92496767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496767A>G , CM000669.2:g.92496767A>G	GRCh38
NC_000007.13:g.92126081A>G , CM000669.1:g.92126081A>G	GRCh37
NC_000007.12:g.91964017A>G	NCBI36
NG_008341.1:g.36765T>C
NG_008341.2:g.36765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2729T>C MANE Select	ENSP00000248633.4:p.Leu910Ser
ENST00000248633.8:c.2729T>C	ENSP00000248633.4:p.Leu910Ser
ENST00000428214.5:c.2558T>C	ENSP00000394413.1:p.Leu853Ser
ENST00000438045.5:c.1763T>C	ENSP00000410438.1:p.Leu588Ser
ENST00000484913.5:n.2768T>C
ENST00000496420.5:n.2621T>C
NM_000466.2:c.2729T>C	NP_000457.1:p.Leu910Ser
NM_001282677.1:c.2558T>C	NP_001269606.1:p.Leu853Ser
NM_001282678.1:c.2105T>C	NP_001269607.1:p.Leu702Ser
XM_005250433.3:c.980T>C	XP_005250490.1:p.Leu327Ser
XR_242246.3:n.2825T>C
XM_017012319.2:c.980T>C	XP_016867808.1:p.Leu327Ser
XR_001744808.2:n.1756T>C
XR_242246.5:n.2776T>C
NM_000466.3:c.2729T>C MANE Select	NP_000457.1:p.Leu910Ser
NM_001282677.2:c.2558T>C	NP_001269606.1:p.Leu853Ser
NM_001282678.2:c.2105T>C	NP_001269607.1:p.Leu702Ser