Canonical Allele Identifier: CA368176983

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131216A>G (hg19) ; chr7:g.92501902A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501902A>G , CM000669.2:g.92501902A>G	GRCh38
NC_000007.13:g.92131216A>G , CM000669.1:g.92131216A>G	GRCh37
NC_000007.12:g.91969152A>G	NCBI36
NG_008341.1:g.31630T>C
NG_008341.2:g.31630T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2404T>C MANE Select	ENSP00000248633.4:p.Ser802Pro
ENST00000248633.8:c.2404T>C	ENSP00000248633.4:p.Ser802Pro
ENST00000428214.5:c.2233T>C	ENSP00000394413.1:p.Ser745Pro
ENST00000438045.5:c.1438T>C	ENSP00000410438.1:p.Ser480Pro
ENST00000484913.5:n.2443T>C
ENST00000496092.1:n.202T>C
ENST00000496420.5:n.2080T>C
NM_000466.2:c.2404T>C	NP_000457.1:p.Ser802Pro
NM_001282677.1:c.2233T>C	NP_001269606.1:p.Ser745Pro
NM_001282678.1:c.1780T>C	NP_001269607.1:p.Ser594Pro
XM_005250433.3:c.655T>C	XP_005250490.1:p.Ser219Pro
XR_242246.3:n.2500T>C
XM_017012319.2:c.655T>C	XP_016867808.1:p.Ser219Pro
XR_001744808.2:n.1431T>C
XR_242246.5:n.2451T>C
NM_000466.3:c.2404T>C MANE Select	NP_000457.1:p.Ser802Pro
NM_001282677.2:c.2233T>C	NP_001269606.1:p.Ser745Pro
NM_001282678.2:c.1780T>C	NP_001269607.1:p.Ser594Pro