Canonical Allele Identifier: CA4017613

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136846072G>C , CM000668.2:g.136846072G>C	GRCh38
NC_000006.11:g.137167210G>C , CM000668.1:g.137167210G>C	GRCh37
NC_000006.10:g.137208903G>C	NCBI36
NG_008462.1:g.28493G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.418-1G>C MANE Select	NP_000279.1:n.418-1G>C
ENST00000318471.5:c.418-1G>C MANE Select	ENSP00000315680.3:n.418-1G>C
NM_000288.3:c.418-1G>C	NP_000279.1:n.418-1G>C
ENST00000318471.4:c.418-1G>C	ENSP00000315680.3:n.418-1G>C
ENST00000541292.5:c.418-1G>C	ENSP00000441004.1:n.418-1G>C
ENST00000541292.6:c.418-1G>C	ENSP00000441004.1:n.418-1G>C
ENST00000678002.1:c.214+19603G>C
ENST00000678557.1:c.304-1G>C	ENSP00000502962.1:n.304-1G>C
ENST00000678593.1:c.423-1G>C	ENSP00000503841.1:n.423-1G>C
ENST00000679286.1:c.298-1G>C	ENSP00000503168.1:n.298-1G>C
XM_005267019.3:c.304-1G>C	XP_005267076.1:n.304-1G>C
XM_005267019.4:c.304-1G>C	XP_005267076.1:n.304-1G>C
XM_006715502.1:c.339+19603G>C	XP_006715565.1:n.339+19603G>C
XM_006715502.2:c.339+19603G>C	XP_006715565.1:n.339+19603G>C
XM_011535900.1:c.418-1G>C	XP_011534202.1:n.418-1G>C
XM_017010934.2:c.418-1G>C	XP_016866423.1:n.418-1G>C