Canonical Allele Identifier: CA368182031

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132477T>G (hg19) ; chr7:g.92503163T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503163T>G , CM000669.2:g.92503163T>G	GRCh38
NC_000007.13:g.92132477T>G , CM000669.1:g.92132477T>G	GRCh37
NC_000007.12:g.91970413T>G	NCBI36
NG_008341.1:g.30369A>C
NG_008341.2:g.30369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2104A>C MANE Select	ENSP00000248633.4:p.Met702Leu
ENST00000248633.8:c.2104A>C	ENSP00000248633.4:p.Met702Leu
ENST00000428214.5:c.1933A>C	ENSP00000394413.1:p.Met645Leu
ENST00000438045.5:c.1138A>C	ENSP00000410438.1:p.Met380Leu
ENST00000484913.5:n.2143A>C
ENST00000496420.5:n.1780A>C
NM_000466.2:c.2104A>C	NP_000457.1:p.Met702Leu
NM_001282677.1:c.1933A>C	NP_001269606.1:p.Met645Leu
NM_001282678.1:c.1480A>C	NP_001269607.1:p.Met494Leu
XM_005250433.3:c.355A>C	XP_005250490.1:p.Met119Leu
XR_242246.3:n.2200A>C
XM_017012319.2:c.355A>C	XP_016867808.1:p.Met119Leu
XR_001744808.2:n.1131A>C
XR_242246.5:n.2151A>C
NM_000466.3:c.2104A>C MANE Select	NP_000457.1:p.Met702Leu
NM_001282677.2:c.1933A>C	NP_001269606.1:p.Met645Leu
NM_001282678.2:c.1480A>C	NP_001269607.1:p.Met494Leu