Canonical Allele Identifier: CA4017662

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866692C>T , CM000668.2:g.136866692C>T	GRCh38
NC_000006.11:g.137187830C>T , CM000668.1:g.137187830C>T	GRCh37
NC_000006.10:g.137229523C>T	NCBI36
NG_008462.1:g.49113C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.592C>T MANE Select	NP_000279.1:p.Gln198Ter
ENST00000318471.5:c.592C>T MANE Select	ENSP00000315680.3:p.Gln198Ter
NM_000288.3:c.592C>T	NP_000279.1:p.Gln198Ter
ENST00000318471.4:c.592C>T	ENSP00000315680.3:p.Gln198Ter
ENST00000541292.5:c.592C>T	ENSP00000441004.1:p.Gln198Ter
ENST00000541292.6:c.592C>T	ENSP00000441004.1:p.Gln198Ter
ENST00000678002.1:c.280C>T
ENST00000678557.1:c.478C>T	ENSP00000502962.1:p.Gln160Ter
ENST00000678593.1:c.597C>T	ENSP00000503841.1:n.597C>T
ENST00000679286.1:c.472C>T	ENSP00000503168.1:p.Gln158Ter
XM_005267019.3:c.478C>T	XP_005267076.1:p.Gln160Ter
XM_005267019.4:c.478C>T	XP_005267076.1:p.Gln160Ter
XM_006715502.1:c.340-3198C>T	XP_006715565.1:n.340-3198C>T
XM_006715502.2:c.340-3198C>T	XP_006715565.1:n.340-3198C>T
XM_011535900.1:c.526+20511C>T	XP_011534202.1:n.526+20511C>T
XM_017010934.2:c.526+20511C>T	XP_016866423.1:n.526+20511C>T