Canonical Allele Identifier: CA368184633

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135576C>G (hg19) ; chr7:g.92506262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506262C>G , CM000669.2:g.92506262C>G	GRCh38
NC_000007.13:g.92135576C>G , CM000669.1:g.92135576C>G	GRCh37
NC_000007.12:g.91973512C>G	NCBI36
NG_008341.1:g.27270G>C
NG_008341.2:g.27270G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1886G>C MANE Select	ENSP00000248633.4:p.Cys629Ser
ENST00000248633.8:c.1886G>C	ENSP00000248633.4:p.Cys629Ser
ENST00000422866.1:c.704G>C
ENST00000428214.5:c.1886G>C	ENSP00000394413.1:p.Cys629Ser
ENST00000438045.5:c.920G>C	ENSP00000410438.1:p.Cys307Ser
ENST00000484913.5:n.1925G>C
ENST00000496420.5:n.1562G>C
NM_000466.2:c.1886G>C	NP_000457.1:p.Cys629Ser
NM_001282677.1:c.1886G>C	NP_001269606.1:p.Cys629Ser
NM_001282678.1:c.1262G>C	NP_001269607.1:p.Cys421Ser
XM_005250433.3:c.137G>C	XP_005250490.1:p.Cys46Ser
XR_242246.3:n.1982G>C
XM_017012319.2:c.137G>C	XP_016867808.1:p.Cys46Ser
XR_001744808.2:n.913G>C
XR_242246.5:n.1933G>C
NM_000466.3:c.1886G>C MANE Select	NP_000457.1:p.Cys629Ser
NM_001282677.2:c.1886G>C	NP_001269606.1:p.Cys629Ser
NM_001282678.2:c.1262G>C	NP_001269607.1:p.Cys421Ser