Canonical Allele Identifier: CA452376858
Gene: PEX7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.137147559T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826421T>A , CM000668.2:g.136826421T>A GRCh38
NC_000006.11:g.137147559T>A , CM000668.1:g.137147559T>A GRCh37
NC_000006.10:g.137189252T>A NCBI36
NG_008462.1:g.8842T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.291T>A MANE Select ENSP00000315680.3:p.Thr97=
ENST00000541292.6:c.291T>A ENSP00000441004.1:p.Thr97=
ENST00000678002.1:c.166T>A
ENST00000678557.1:c.177T>A ENSP00000502962.1:p.Thr59=
ENST00000678593.1:c.296T>A ENSP00000503841.1:n.296T>A
ENST00000679286.1:c.171T>A ENSP00000503168.1:p.Thr57=
ENST00000318471.4:c.291T>A ENSP00000315680.3:p.Thr97=
ENST00000367756.8:c.291T>A ENSP00000356730.4:p.Thr97=
ENST00000541292.5:c.291T>A ENSP00000441004.1:p.Thr97=
NM_000288.3:c.291T>A NP_000279.1:p.Thr97=
XM_005267019.3:c.177T>A XP_005267076.1:p.Thr59=
XM_006715502.1:c.291T>A XP_006715565.1:p.Thr97=
XM_011535900.1:c.291T>A XP_011534202.1:p.Thr97=
XM_005267019.4:c.177T>A XP_005267076.1:p.Thr59=
XM_006715502.2:c.291T>A XP_006715565.1:p.Thr97=
XM_017010934.2:c.291T>A XP_016866423.1:p.Thr97=
NM_000288.4:c.291T>A MANE Select NP_000279.1:p.Thr97=