Canonical Allele Identifier: CA452228768

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872200-T-C
• MyVariant Identifiers: chr6:g.137193338T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872200T>C , CM000668.2:g.136872200T>C	GRCh38
NC_000006.11:g.137193338T>C , CM000668.1:g.137193338T>C	GRCh37
NC_000006.10:g.137235031T>C	NCBI36
NG_008462.1:g.54621T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.750T>C MANE Select	ENSP00000315680.3:p.Phe250=
ENST00000541292.6:c.*15T>C	ENSP00000441004.1:n.*15T>C
ENST00000678002.1:c.438T>C
ENST00000678557.1:c.636T>C	ENSP00000502962.1:p.Phe212=
ENST00000678593.1:c.755T>C	ENSP00000503841.1:n.755T>C
ENST00000679286.1:c.630T>C	ENSP00000503168.1:p.Phe210=
ENST00000318471.4:c.750T>C	ENSP00000315680.3:p.Phe250=
NM_000288.3:c.750T>C	NP_000279.1:p.Phe250=
XM_005267019.3:c.636T>C	XP_005267076.1:p.Phe212=
XM_006715502.1:c.456T>C	XP_006715565.1:p.Phe152=
XM_011535900.1:c.527-25942T>C	XP_011534202.1:n.527-25942T>C
XM_005267019.4:c.636T>C	XP_005267076.1:p.Phe212=
XM_006715502.2:c.456T>C	XP_006715565.1:p.Phe152=
XM_017010934.2:c.527-25942T>C	XP_016866423.1:n.527-25942T>C
NM_000288.4:c.750T>C MANE Select	NP_000279.1:p.Phe250=