Canonical Allele Identifier: CA365855799

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147495G>C (hg19) ; chr6:g.136826357G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826357G>C , CM000668.2:g.136826357G>C	GRCh38
NC_000006.11:g.137147495G>C , CM000668.1:g.137147495G>C	GRCh37
NC_000006.10:g.137189188G>C	NCBI36
NG_008462.1:g.8778G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.227G>C MANE Select	ENSP00000315680.3:p.Ser76Thr
ENST00000541292.6:c.227G>C	ENSP00000441004.1:p.Ser76Thr
ENST00000678002.1:c.102G>C
ENST00000678557.1:c.113G>C	ENSP00000502962.1:p.Ser38Thr
ENST00000678593.1:c.232G>C	ENSP00000503841.1:n.232G>C
ENST00000679286.1:c.107G>C	ENSP00000503168.1:p.Ser36Thr
ENST00000318471.4:c.227G>C	ENSP00000315680.3:p.Ser76Thr
ENST00000367756.8:c.227G>C	ENSP00000356730.4:p.Ser76Thr
ENST00000541292.5:c.227G>C	ENSP00000441004.1:p.Ser76Thr
NM_000288.3:c.227G>C	NP_000279.1:p.Ser76Thr
XM_005267019.3:c.113G>C	XP_005267076.1:p.Ser38Thr
XM_006715502.1:c.227G>C	XP_006715565.1:p.Ser76Thr
XM_011535900.1:c.227G>C	XP_011534202.1:p.Ser76Thr
XM_005267019.4:c.113G>C	XP_005267076.1:p.Ser38Thr
XM_006715502.2:c.227G>C	XP_006715565.1:p.Ser76Thr
XM_017010934.2:c.227G>C	XP_016866423.1:p.Ser76Thr
NM_000288.4:c.227G>C MANE Select	NP_000279.1:p.Ser76Thr