Canonical Allele Identifier: CA368177885

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131306C>A (hg19) ; chr7:g.92501992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501992C>A , CM000669.2:g.92501992C>A	GRCh38
NC_000007.13:g.92131306C>A , CM000669.1:g.92131306C>A	GRCh37
NC_000007.12:g.91969242C>A	NCBI36
NG_008341.1:g.31540G>T
NG_008341.2:g.31540G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2314G>T MANE Select	ENSP00000248633.4:p.Val772Leu
ENST00000248633.8:c.2314G>T	ENSP00000248633.4:p.Val772Leu
ENST00000428214.5:c.2143G>T	ENSP00000394413.1:p.Val715Leu
ENST00000438045.5:c.1348G>T	ENSP00000410438.1:p.Val450Leu
ENST00000484913.5:n.2353G>T
ENST00000496092.1:n.112G>T
ENST00000496420.5:n.1990G>T
NM_000466.2:c.2314G>T	NP_000457.1:p.Val772Leu
NM_001282677.1:c.2143G>T	NP_001269606.1:p.Val715Leu
NM_001282678.1:c.1690G>T	NP_001269607.1:p.Val564Leu
XM_005250433.3:c.565G>T	XP_005250490.1:p.Val189Leu
XR_242246.3:n.2410G>T
XM_017012319.2:c.565G>T	XP_016867808.1:p.Val189Leu
XR_001744808.2:n.1341G>T
XR_242246.5:n.2361G>T
NM_000466.3:c.2314G>T MANE Select	NP_000457.1:p.Val772Leu
NM_001282677.2:c.2143G>T	NP_001269606.1:p.Val715Leu
NM_001282678.2:c.1690G>T	NP_001269607.1:p.Val564Leu