Canonical Allele Identifier: CA368184217

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134208G>A (hg19) ; chr7:g.92504894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504894G>A , CM000669.2:g.92504894G>A	GRCh38
NC_000007.13:g.92134208G>A , CM000669.1:g.92134208G>A	GRCh37
NC_000007.12:g.91972144G>A	NCBI36
NG_008341.1:g.28638C>T
NG_008341.2:g.28638C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1909C>T MANE Select	ENSP00000248633.4:p.Leu637Phe
ENST00000248633.8:c.1909C>T	ENSP00000248633.4:p.Leu637Phe
ENST00000422866.1:c.727C>T
ENST00000428214.5:c.1900+1354C>T	ENSP00000394413.1:n.1900+1354C>T
ENST00000438045.5:c.943C>T	ENSP00000410438.1:p.Leu315Phe
ENST00000484913.5:n.1948C>T
ENST00000496420.5:n.1585C>T
NM_000466.2:c.1909C>T	NP_000457.1:p.Leu637Phe
NM_001282677.1:c.1900+1354C>T	NP_001269606.1:n.1900+1354C>T
NM_001282678.1:c.1285C>T	NP_001269607.1:p.Leu429Phe
XM_005250433.3:c.160C>T	XP_005250490.1:p.Leu54Phe
XR_242246.3:n.2005C>T
XM_017012319.2:c.160C>T	XP_016867808.1:p.Leu54Phe
XR_001744808.2:n.936C>T
XR_242246.5:n.1956C>T
NM_000466.3:c.1909C>T MANE Select	NP_000457.1:p.Leu637Phe
NM_001282677.2:c.1900+1354C>T	NP_001269606.1:n.1900+1354C>T
NM_001282678.2:c.1285C>T	NP_001269607.1:p.Leu429Phe