Canonical Allele Identifier: CA368200130

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147081C>G (hg19) ; chr7:g.92517767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517767C>G , CM000669.2:g.92517767C>G	GRCh38
NC_000007.13:g.92147081C>G , CM000669.1:g.92147081C>G	GRCh37
NC_000007.12:g.91985017C>G	NCBI36
NG_008341.1:g.15765G>C
NG_008341.2:g.15765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.748G>C MANE Select	ENSP00000248633.4:p.Gly250Arg
ENST00000248633.8:c.748G>C	ENSP00000248633.4:p.Gly250Arg
ENST00000428214.5:c.748G>C	ENSP00000394413.1:p.Gly250Arg
ENST00000438045.5:c.274-3800G>C	ENSP00000410438.1:n.274-3800G>C
ENST00000484913.5:n.787G>C
NM_000466.2:c.748G>C	NP_000457.1:p.Gly250Arg
NM_001282677.1:c.748G>C	NP_001269606.1:p.Gly250Arg
NM_001282678.1:c.124G>C	NP_001269607.1:p.Gly42Arg
XR_242246.3:n.844G>C
XR_242246.5:n.795G>C
NM_000466.3:c.748G>C MANE Select	NP_000457.1:p.Gly250Arg
NM_001282677.2:c.748G>C	NP_001269606.1:p.Gly250Arg
NM_001282678.2:c.124G>C	NP_001269607.1:p.Gly42Arg