Canonical Allele Identifier: CA368177495

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131270A>G (hg19) ; chr7:g.92501956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501956A>G , CM000669.2:g.92501956A>G	GRCh38
NC_000007.13:g.92131270A>G , CM000669.1:g.92131270A>G	GRCh37
NC_000007.12:g.91969206A>G	NCBI36
NG_008341.1:g.31576T>C
NG_008341.2:g.31576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2350T>C MANE Select	ENSP00000248633.4:p.Phe784Leu
ENST00000248633.8:c.2350T>C	ENSP00000248633.4:p.Phe784Leu
ENST00000428214.5:c.2179T>C	ENSP00000394413.1:p.Phe727Leu
ENST00000438045.5:c.1384T>C	ENSP00000410438.1:p.Phe462Leu
ENST00000484913.5:n.2389T>C
ENST00000496092.1:n.148T>C
ENST00000496420.5:n.2026T>C
NM_000466.2:c.2350T>C	NP_000457.1:p.Phe784Leu
NM_001282677.1:c.2179T>C	NP_001269606.1:p.Phe727Leu
NM_001282678.1:c.1726T>C	NP_001269607.1:p.Phe576Leu
XM_005250433.3:c.601T>C	XP_005250490.1:p.Phe201Leu
XR_242246.3:n.2446T>C
XM_017012319.2:c.601T>C	XP_016867808.1:p.Phe201Leu
XR_001744808.2:n.1377T>C
XR_242246.5:n.2397T>C
NM_000466.3:c.2350T>C MANE Select	NP_000457.1:p.Phe784Leu
NM_001282677.2:c.2179T>C	NP_001269606.1:p.Phe727Leu
NM_001282678.2:c.1726T>C	NP_001269607.1:p.Phe576Leu