Canonical Allele Identifier: CA365764150

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137191136G>C (hg19) ; chr6:g.136869998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869998G>C , CM000668.2:g.136869998G>C	GRCh38
NC_000006.11:g.137191136G>C , CM000668.1:g.137191136G>C	GRCh37
NC_000006.10:g.137232829G>C	NCBI36
NG_008462.1:g.52419G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.742G>C MANE Select	ENSP00000315680.3:p.Val248Leu
ENST00000541292.6:c.742G>C	ENSP00000441004.1:p.Val248Leu
ENST00000678002.1:c.430G>C
ENST00000678557.1:c.628G>C	ENSP00000502962.1:p.Val210Leu
ENST00000678593.1:c.747G>C	ENSP00000503841.1:n.747G>C
ENST00000679286.1:c.622G>C	ENSP00000503168.1:p.Val208Leu
ENST00000318471.4:c.742G>C	ENSP00000315680.3:p.Val248Leu
ENST00000541292.5:c.742G>C	ENSP00000441004.1:p.Val248Leu
NM_000288.3:c.742G>C	NP_000279.1:p.Val248Leu
XM_005267019.3:c.628G>C	XP_005267076.1:p.Val210Leu
XM_006715502.1:c.448G>C	XP_006715565.1:p.Val150Leu
XM_011535900.1:c.526+23817G>C	XP_011534202.1:n.526+23817G>C
XM_005267019.4:c.628G>C	XP_005267076.1:p.Val210Leu
XM_006715502.2:c.448G>C	XP_006715565.1:p.Val150Leu
XM_017010934.2:c.526+23817G>C	XP_016866423.1:n.526+23817G>C
NM_000288.4:c.742G>C MANE Select	NP_000279.1:p.Val248Leu