Canonical Allele Identifier: CA365762981

Gene: PEX7

Linked Data

• dbSNP Id: rs1775078396
• gnomAD v3: 6-136866680-A-C
• gnomAD v4: 6-136866680-A-C
• MyVariant Identifiers: chr6:g.137187818A>C (hg19) ; chr6:g.136866680A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866680A>C , CM000668.2:g.136866680A>C	GRCh38
NC_000006.11:g.137187818A>C , CM000668.1:g.137187818A>C	GRCh37
NC_000006.10:g.137229511A>C	NCBI36
NG_008462.1:g.49101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.580A>C MANE Select	ENSP00000315680.3:p.Ile194Leu
ENST00000541292.6:c.580A>C	ENSP00000441004.1:p.Ile194Leu
ENST00000678002.1:c.268A>C
ENST00000678557.1:c.466A>C	ENSP00000502962.1:p.Ile156Leu
ENST00000678593.1:c.585A>C	ENSP00000503841.1:n.585A>C
ENST00000679286.1:c.460A>C	ENSP00000503168.1:p.Ile154Leu
ENST00000318471.4:c.580A>C	ENSP00000315680.3:p.Ile194Leu
ENST00000541292.5:c.580A>C	ENSP00000441004.1:p.Ile194Leu
NM_000288.3:c.580A>C	NP_000279.1:p.Ile194Leu
XM_005267019.3:c.466A>C	XP_005267076.1:p.Ile156Leu
XM_006715502.1:c.340-3210A>C	XP_006715565.1:n.340-3210A>C
XM_011535900.1:c.526+20499A>C	XP_011534202.1:n.526+20499A>C
XM_005267019.4:c.466A>C	XP_005267076.1:p.Ile156Leu
XM_006715502.2:c.340-3210A>C	XP_006715565.1:n.340-3210A>C
XM_017010934.2:c.526+20499A>C	XP_016866423.1:n.526+20499A>C
NM_000288.4:c.580A>C MANE Select	NP_000279.1:p.Ile194Leu