Canonical Allele Identifier: CA368201389

Gene: PEX1

Linked Data

• dbSNP Id: rs2116247447
• MyVariant Identifiers: chr7:g.92147291T>G (hg19) ; chr7:g.92517977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517977T>G , CM000669.2:g.92517977T>G	GRCh38
NC_000007.13:g.92147291T>G , CM000669.1:g.92147291T>G	GRCh37
NC_000007.12:g.91985227T>G	NCBI36
NG_008341.1:g.15555A>C
NG_008341.2:g.15555A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.538A>C MANE Select	ENSP00000248633.4:p.Lys180Gln
ENST00000248633.8:c.538A>C	ENSP00000248633.4:p.Lys180Gln
ENST00000428214.5:c.538A>C	ENSP00000394413.1:p.Lys180Gln
ENST00000438045.5:c.274-4010A>C	ENSP00000410438.1:n.274-4010A>C
ENST00000484913.5:n.577A>C
NM_000466.2:c.538A>C	NP_000457.1:p.Lys180Gln
NM_001282677.1:c.538A>C	NP_001269606.1:p.Lys180Gln
NM_001282678.1:c.-87A>C	NP_001269607.1:n.-87A>C
XR_242246.3:n.634A>C
XR_242246.5:n.585A>C
NM_000466.3:c.538A>C MANE Select	NP_000457.1:p.Lys180Gln
NM_001282677.2:c.538A>C	NP_001269606.1:p.Lys180Gln
NM_001282678.2:c.-87A>C	NP_001269607.1:n.-87A>C