Canonical Allele Identifier: CA365766678

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219329C>T (hg19) ; chr6:g.136898191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898191C>T , CM000668.2:g.136898191C>T	GRCh38
NC_000006.11:g.137219329C>T , CM000668.1:g.137219329C>T	GRCh37
NC_000006.10:g.137261022C>T	NCBI36
NG_008462.1:g.80612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.853C>T MANE Select	ENSP00000315680.3:p.His285Tyr
ENST00000541292.6:c.*118C>T	ENSP00000441004.1:n.*118C>T
ENST00000678002.1:c.541C>T
ENST00000678557.1:c.739C>T	ENSP00000502962.1:p.His247Tyr
ENST00000679286.1:c.733C>T	ENSP00000503168.1:p.His245Tyr
ENST00000318471.4:c.853C>T	ENSP00000315680.3:p.His285Tyr
NM_000288.3:c.853C>T	NP_000279.1:p.His285Tyr
XM_005267019.3:c.739C>T	XP_005267076.1:p.His247Tyr
XM_006715502.1:c.559C>T	XP_006715565.1:p.His187Tyr
XM_011535900.1:c.576C>T	XP_011534202.1:p.Ile192=
XM_005267019.4:c.739C>T	XP_005267076.1:p.His247Tyr
XM_006715502.2:c.559C>T	XP_006715565.1:p.His187Tyr
XM_017010934.2:c.576C>T	XP_016866423.1:p.Ile192=
NM_000288.4:c.853C>T MANE Select	NP_000279.1:p.His285Tyr