Canonical Allele Identifier: CA1094890288

Gene: PEX7

Linked Data

• dbSNP Id: rs1775201590
• gnomAD v3: 6-136872521-T-C
• gnomAD v4: 6-136872521-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872521T>C , CM000668.2:g.136872521T>C	GRCh38
NC_000006.11:g.137193659T>C , CM000668.1:g.137193659T>C	GRCh37
NC_000006.10:g.137235352T>C	NCBI36
NG_008462.1:g.54942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+268T>C MANE Select	ENSP00000315680.3:n.803+268T>C
ENST00000541292.6:c.*68+268T>C	ENSP00000441004.1:n.*68+268T>C
ENST00000678002.1:c.491+268T>C
ENST00000678557.1:c.689+268T>C	ENSP00000502962.1:n.689+268T>C
ENST00000678593.1:c.1076T>C	ENSP00000503841.1:n.1076T>C
ENST00000679286.1:c.683+268T>C	ENSP00000503168.1:n.683+268T>C
ENST00000318471.4:c.803+268T>C	ENSP00000315680.3:n.803+268T>C
NM_000288.3:c.803+268T>C	NP_000279.1:n.803+268T>C
XM_005267019.3:c.689+268T>C	XP_005267076.1:n.689+268T>C
XM_006715502.1:c.509+268T>C	XP_006715565.1:n.509+268T>C
XM_011535900.1:c.527-25621T>C	XP_011534202.1:n.527-25621T>C
XM_005267019.4:c.689+268T>C	XP_005267076.1:n.689+268T>C
XM_006715502.2:c.509+268T>C	XP_006715565.1:n.509+268T>C
XM_017010934.2:c.527-25621T>C	XP_016866423.1:n.527-25621T>C
NM_000288.4:c.803+268T>C MANE Select	NP_000279.1:n.803+268T>C