Canonical Allele Identifier: CA1094890285

Gene: PEX7

Linked Data

• dbSNP Id: rs1775200893
• gnomAD v3: 6-136872467-G-T
• gnomAD v4: 6-136872467-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872467G>T , CM000668.2:g.136872467G>T	GRCh38
NC_000006.11:g.137193605G>T , CM000668.1:g.137193605G>T	GRCh37
NC_000006.10:g.137235298G>T	NCBI36
NG_008462.1:g.54888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+214G>T MANE Select	ENSP00000315680.3:n.803+214G>T
ENST00000541292.6:c.*68+214G>T	ENSP00000441004.1:n.*68+214G>T
ENST00000678002.1:c.491+214G>T
ENST00000678557.1:c.689+214G>T	ENSP00000502962.1:n.689+214G>T
ENST00000678593.1:c.1022G>T	ENSP00000503841.1:n.1022G>T
ENST00000679286.1:c.683+214G>T	ENSP00000503168.1:n.683+214G>T
ENST00000318471.4:c.803+214G>T	ENSP00000315680.3:n.803+214G>T
NM_000288.3:c.803+214G>T	NP_000279.1:n.803+214G>T
XM_005267019.3:c.689+214G>T	XP_005267076.1:n.689+214G>T
XM_006715502.1:c.509+214G>T	XP_006715565.1:n.509+214G>T
XM_011535900.1:c.527-25675G>T	XP_011534202.1:n.527-25675G>T
XM_005267019.4:c.689+214G>T	XP_005267076.1:n.689+214G>T
XM_006715502.2:c.509+214G>T	XP_006715565.1:n.509+214G>T
XM_017010934.2:c.527-25675G>T	XP_016866423.1:n.527-25675G>T
NM_000288.4:c.803+214G>T MANE Select	NP_000279.1:n.803+214G>T