Canonical Allele Identifier: CA365764154

Gene: PEX7

Linked Data

• gnomAD v4: 6-136869999-T-C
• MyVariant Identifiers: chr6:g.137191137T>C (hg19) ; chr6:g.136869999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869999T>C , CM000668.2:g.136869999T>C	GRCh38
NC_000006.11:g.137191137T>C , CM000668.1:g.137191137T>C	GRCh37
NC_000006.10:g.137232830T>C	NCBI36
NG_008462.1:g.52420T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.743T>C MANE Select	ENSP00000315680.3:p.Val248Ala
ENST00000541292.6:c.743T>C	ENSP00000441004.1:p.Val248Ala
ENST00000678002.1:c.431T>C
ENST00000678557.1:c.629T>C	ENSP00000502962.1:p.Val210Ala
ENST00000678593.1:c.748T>C	ENSP00000503841.1:n.748T>C
ENST00000679286.1:c.623T>C	ENSP00000503168.1:p.Val208Ala
ENST00000318471.4:c.743T>C	ENSP00000315680.3:p.Val248Ala
ENST00000541292.5:c.743T>C	ENSP00000441004.1:p.Val248Ala
NM_000288.3:c.743T>C	NP_000279.1:p.Val248Ala
XM_005267019.3:c.629T>C	XP_005267076.1:p.Val210Ala
XM_006715502.1:c.449T>C	XP_006715565.1:p.Val150Ala
XM_011535900.1:c.526+23818T>C	XP_011534202.1:n.526+23818T>C
XM_005267019.4:c.629T>C	XP_005267076.1:p.Val210Ala
XM_006715502.2:c.449T>C	XP_006715565.1:p.Val150Ala
XM_017010934.2:c.526+23818T>C	XP_016866423.1:n.526+23818T>C
NM_000288.4:c.743T>C MANE Select	NP_000279.1:p.Val248Ala