Canonical Allele Identifier: CA2773214787

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872418T>C , CM000668.2:g.136872418T>C	GRCh38
NC_000006.11:g.137193556T>C , CM000668.1:g.137193556T>C	GRCh37
NC_000006.10:g.137235249T>C	NCBI36
NG_008462.1:g.54839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+165T>C MANE Select	ENSP00000315680.3:n.803+165T>C
ENST00000541292.6:c.*68+165T>C	ENSP00000441004.1:n.*68+165T>C
ENST00000678002.1:c.491+165T>C
ENST00000678557.1:c.689+165T>C	ENSP00000502962.1:n.689+165T>C
ENST00000678593.1:c.973T>C	ENSP00000503841.1:n.973T>C
ENST00000679286.1:c.683+165T>C	ENSP00000503168.1:n.683+165T>C
ENST00000318471.4:c.803+165T>C	ENSP00000315680.3:n.803+165T>C
NM_000288.3:c.803+165T>C	NP_000279.1:n.803+165T>C
XM_005267019.3:c.689+165T>C	XP_005267076.1:n.689+165T>C
XM_006715502.1:c.509+165T>C	XP_006715565.1:n.509+165T>C
XM_011535900.1:c.527-25724T>C	XP_011534202.1:n.527-25724T>C
XM_005267019.4:c.689+165T>C	XP_005267076.1:n.689+165T>C
XM_006715502.2:c.509+165T>C	XP_006715565.1:n.509+165T>C
XM_017010934.2:c.527-25724T>C	XP_016866423.1:n.527-25724T>C
NM_000288.4:c.803+165T>C MANE Select	NP_000279.1:n.803+165T>C