Canonical Allele Identifier: CA452227852

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866730T>C , CM000668.2:g.136866730T>C	GRCh38
NC_000006.11:g.137187868T>C , CM000668.1:g.137187868T>C	GRCh37
NC_000006.10:g.137229561T>C	NCBI36
NG_008462.1:g.49151T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.630T>C MANE Select	NP_000279.1:p.Asn210=
ENST00000318471.5:c.630T>C MANE Select	ENSP00000315680.3:p.Asn210=
NM_000288.3:c.630T>C	NP_000279.1:p.Asn210=
ENST00000318471.4:c.630T>C	ENSP00000315680.3:p.Asn210=
ENST00000541292.5:c.630T>C	ENSP00000441004.1:p.Asn210=
ENST00000541292.6:c.630T>C	ENSP00000441004.1:p.Asn210=
ENST00000678002.1:c.318T>C
ENST00000678557.1:c.516T>C	ENSP00000502962.1:p.Asn172=
ENST00000678593.1:c.635T>C	ENSP00000503841.1:n.635T>C
ENST00000679286.1:c.510T>C	ENSP00000503168.1:p.Asn170=
XM_005267019.3:c.516T>C	XP_005267076.1:p.Asn172=
XM_005267019.4:c.516T>C	XP_005267076.1:p.Asn172=
XM_006715502.1:c.340-3160T>C	XP_006715565.1:n.340-3160T>C
XM_006715502.2:c.340-3160T>C	XP_006715565.1:n.340-3160T>C
XM_011535900.1:c.526+20549T>C	XP_011534202.1:n.526+20549T>C
XM_017010934.2:c.526+20549T>C	XP_016866423.1:n.526+20549T>C