Canonical Allele Identifier: CA365763126

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187850T>G (hg19) ; chr6:g.136866712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866712T>G , CM000668.2:g.136866712T>G	GRCh38
NC_000006.11:g.137187850T>G , CM000668.1:g.137187850T>G	GRCh37
NC_000006.10:g.137229543T>G	NCBI36
NG_008462.1:g.49133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.612T>G MANE Select	ENSP00000315680.3:p.Cys204Trp
ENST00000541292.6:c.612T>G	ENSP00000441004.1:p.Cys204Trp
ENST00000678002.1:c.300T>G
ENST00000678557.1:c.498T>G	ENSP00000502962.1:p.Cys166Trp
ENST00000678593.1:c.617T>G	ENSP00000503841.1:n.617T>G
ENST00000679286.1:c.492T>G	ENSP00000503168.1:p.Cys164Trp
ENST00000318471.4:c.612T>G	ENSP00000315680.3:p.Cys204Trp
ENST00000541292.5:c.612T>G	ENSP00000441004.1:p.Cys204Trp
NM_000288.3:c.612T>G	NP_000279.1:p.Cys204Trp
XM_005267019.3:c.498T>G	XP_005267076.1:p.Cys166Trp
XM_006715502.1:c.340-3178T>G	XP_006715565.1:n.340-3178T>G
XM_011535900.1:c.526+20531T>G	XP_011534202.1:n.526+20531T>G
XM_005267019.4:c.498T>G	XP_005267076.1:p.Cys166Trp
XM_006715502.2:c.340-3178T>G	XP_006715565.1:n.340-3178T>G
XM_017010934.2:c.526+20531T>G	XP_016866423.1:n.526+20531T>G
NM_000288.4:c.612T>G MANE Select	NP_000279.1:p.Cys204Trp