Canonical Allele Identifier: CA2578751755

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866804T>C , CM000668.2:g.136866804T>C	GRCh38
NC_000006.11:g.137187942T>C , CM000668.1:g.137187942T>C	GRCh37
NC_000006.10:g.137229635T>C	NCBI36
NG_008462.1:g.49225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.633+71T>C MANE Select	ENSP00000315680.3:n.633+71T>C
ENST00000541292.6:c.633+71T>C	ENSP00000441004.1:n.633+71T>C
ENST00000678002.1:c.321+71T>C
ENST00000678557.1:c.519+71T>C	ENSP00000502962.1:n.519+71T>C
ENST00000678593.1:c.638+71T>C	ENSP00000503841.1:n.638+71T>C
ENST00000679286.1:c.513+71T>C	ENSP00000503168.1:n.513+71T>C
ENST00000318471.4:c.633+71T>C	ENSP00000315680.3:n.633+71T>C
ENST00000541292.5:c.633+71T>C	ENSP00000441004.1:n.633+71T>C
NM_000288.3:c.633+71T>C	NP_000279.1:n.633+71T>C
XM_005267019.3:c.519+71T>C	XP_005267076.1:n.519+71T>C
XM_006715502.1:c.340-3086T>C	XP_006715565.1:n.340-3086T>C
XM_011535900.1:c.526+20623T>C	XP_011534202.1:n.526+20623T>C
XM_005267019.4:c.519+71T>C	XP_005267076.1:n.519+71T>C
XM_006715502.2:c.340-3086T>C	XP_006715565.1:n.340-3086T>C
XM_017010934.2:c.526+20623T>C	XP_016866423.1:n.526+20623T>C
NM_000288.4:c.633+71T>C MANE Select	NP_000279.1:n.633+71T>C