Canonical Allele Identifier: CA452228781

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872218-T-C
• MyVariant Identifiers: chr6:g.137193356T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872218T>C , CM000668.2:g.136872218T>C	GRCh38
NC_000006.11:g.137193356T>C , CM000668.1:g.137193356T>C	GRCh37
NC_000006.10:g.137235049T>C	NCBI36
NG_008462.1:g.54639T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.768T>C MANE Select	ENSP00000315680.3:p.Ser256=
ENST00000541292.6:c.*33T>C	ENSP00000441004.1:n.*33T>C
ENST00000678002.1:c.456T>C
ENST00000678557.1:c.654T>C	ENSP00000502962.1:p.Ser218=
ENST00000678593.1:c.773T>C	ENSP00000503841.1:n.773T>C
ENST00000679286.1:c.648T>C	ENSP00000503168.1:p.Ser216=
ENST00000318471.4:c.768T>C	ENSP00000315680.3:p.Ser256=
NM_000288.3:c.768T>C	NP_000279.1:p.Ser256=
XM_005267019.3:c.654T>C	XP_005267076.1:p.Ser218=
XM_006715502.1:c.474T>C	XP_006715565.1:p.Ser158=
XM_011535900.1:c.527-25924T>C	XP_011534202.1:n.527-25924T>C
XM_005267019.4:c.654T>C	XP_005267076.1:p.Ser218=
XM_006715502.2:c.474T>C	XP_006715565.1:p.Ser158=
XM_017010934.2:c.527-25924T>C	XP_016866423.1:n.527-25924T>C
NM_000288.4:c.768T>C MANE Select	NP_000279.1:p.Ser256=