Canonical Allele Identifier: CA365763973

Gene: PEX7

Linked Data

• dbSNP Id: rs1775143378
• MyVariant Identifiers: chr6:g.137191052G>T (hg19) ; chr6:g.136869914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869914G>T , CM000668.2:g.136869914G>T	GRCh38
NC_000006.11:g.137191052G>T , CM000668.1:g.137191052G>T	GRCh37
NC_000006.10:g.137232745G>T	NCBI36
NG_008462.1:g.52335G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.658G>T MANE Select	ENSP00000315680.3:p.Asp220Tyr
ENST00000541292.6:c.658G>T	ENSP00000441004.1:p.Asp220Tyr
ENST00000678002.1:c.346G>T
ENST00000678557.1:c.544G>T	ENSP00000502962.1:p.Asp182Tyr
ENST00000678593.1:c.663G>T	ENSP00000503841.1:n.663G>T
ENST00000679286.1:c.538G>T	ENSP00000503168.1:p.Asp180Tyr
ENST00000318471.4:c.658G>T	ENSP00000315680.3:p.Asp220Tyr
ENST00000541292.5:c.658G>T	ENSP00000441004.1:p.Asp220Tyr
NM_000288.3:c.658G>T	NP_000279.1:p.Asp220Tyr
XM_005267019.3:c.544G>T	XP_005267076.1:p.Asp182Tyr
XM_006715502.1:c.364G>T	XP_006715565.1:p.Asp122Tyr
XM_011535900.1:c.526+23733G>T	XP_011534202.1:n.526+23733G>T
XM_005267019.4:c.544G>T	XP_005267076.1:p.Asp182Tyr
XM_006715502.2:c.364G>T	XP_006715565.1:p.Asp122Tyr
XM_017010934.2:c.526+23733G>T	XP_016866423.1:n.526+23733G>T
NM_000288.4:c.658G>T MANE Select	NP_000279.1:p.Asp220Tyr