Canonical Allele Identifier: CA365856738

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136845636C>T , CM000668.2:g.136845636C>T	GRCh38
NC_000006.11:g.137166774C>T , CM000668.1:g.137166774C>T	GRCh37
NC_000006.10:g.137208467C>T	NCBI36
NG_008462.1:g.28057C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.361C>T MANE Select	NP_000279.1:p.Gln121Ter
ENST00000318471.5:c.361C>T MANE Select	ENSP00000315680.3:p.Gln121Ter
NM_000288.3:c.361C>T	NP_000279.1:p.Gln121Ter
ENST00000318471.4:c.361C>T	ENSP00000315680.3:p.Gln121Ter
ENST00000541292.5:c.361C>T	ENSP00000441004.1:p.Gln121Ter
ENST00000541292.6:c.361C>T	ENSP00000441004.1:p.Gln121Ter
ENST00000678002.1:c.214+19167C>T
ENST00000678557.1:c.247C>T	ENSP00000502962.1:p.Gln83Ter
ENST00000678593.1:c.366C>T	ENSP00000503841.1:n.366C>T
ENST00000679286.1:c.241C>T	ENSP00000503168.1:p.Gln81Ter
XM_005267019.3:c.247C>T	XP_005267076.1:p.Gln83Ter
XM_005267019.4:c.247C>T	XP_005267076.1:p.Gln83Ter
XM_006715502.1:c.339+19167C>T	XP_006715565.1:n.339+19167C>T
XM_006715502.2:c.339+19167C>T	XP_006715565.1:n.339+19167C>T
XM_011535900.1:c.361C>T	XP_011534202.1:p.Gln121Ter
XM_017010934.2:c.361C>T	XP_016866423.1:p.Gln121Ter