Canonical Allele Identifier: CA365764470

Gene: PEX7

Linked Data

• dbSNP Id: rs1194479634
• gnomAD v2: 6-137193378-G-T
• gnomAD v4: 6-136872240-G-T
• MyVariant Identifiers: chr6:g.137193378G>T (hg19) ; chr6:g.136872240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872240G>T , CM000668.2:g.136872240G>T	GRCh38
NC_000006.11:g.137193378G>T , CM000668.1:g.137193378G>T	GRCh37
NC_000006.10:g.137235071G>T	NCBI36
NG_008462.1:g.54661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.790G>T MANE Select	ENSP00000315680.3:p.Asp264Tyr
ENST00000541292.6:c.*55G>T	ENSP00000441004.1:n.*55G>T
ENST00000678002.1:c.478G>T
ENST00000678557.1:c.676G>T	ENSP00000502962.1:p.Asp226Tyr
ENST00000678593.1:c.795G>T	ENSP00000503841.1:n.795G>T
ENST00000679286.1:c.670G>T	ENSP00000503168.1:p.Asp224Tyr
ENST00000318471.4:c.790G>T	ENSP00000315680.3:p.Asp264Tyr
NM_000288.3:c.790G>T	NP_000279.1:p.Asp264Tyr
XM_005267019.3:c.676G>T	XP_005267076.1:p.Asp226Tyr
XM_006715502.1:c.496G>T	XP_006715565.1:p.Asp166Tyr
XM_011535900.1:c.527-25902G>T	XP_011534202.1:n.527-25902G>T
XM_005267019.4:c.676G>T	XP_005267076.1:p.Asp226Tyr
XM_006715502.2:c.496G>T	XP_006715565.1:p.Asp166Tyr
XM_017010934.2:c.527-25902G>T	XP_016866423.1:n.527-25902G>T
NM_000288.4:c.790G>T MANE Select	NP_000279.1:p.Asp264Tyr