Canonical Allele Identifier: CA365855832

Gene: PEX7

Linked Data

• dbSNP Id: rs1040023155
• COSMIC: COSM4445037 ; COSM4445038
• MyVariant Identifiers: chr6:g.137147509C>T (hg19) ; chr6:g.136826371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826371C>T , CM000668.2:g.136826371C>T	GRCh38
NC_000006.11:g.137147509C>T , CM000668.1:g.137147509C>T	GRCh37
NC_000006.10:g.137189202C>T	NCBI36
NG_008462.1:g.8792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.241C>T MANE Select	ENSP00000315680.3:p.His81Tyr
ENST00000541292.6:c.241C>T	ENSP00000441004.1:p.His81Tyr
ENST00000678002.1:c.116C>T
ENST00000678557.1:c.127C>T	ENSP00000502962.1:p.His43Tyr
ENST00000678593.1:c.246C>T	ENSP00000503841.1:n.246C>T
ENST00000679286.1:c.121C>T	ENSP00000503168.1:p.His41Tyr
ENST00000318471.4:c.241C>T	ENSP00000315680.3:p.His81Tyr
ENST00000367756.8:c.241C>T	ENSP00000356730.4:p.His81Tyr
ENST00000541292.5:c.241C>T	ENSP00000441004.1:p.His81Tyr
NM_000288.3:c.241C>T	NP_000279.1:p.His81Tyr
XM_005267019.3:c.127C>T	XP_005267076.1:p.His43Tyr
XM_006715502.1:c.241C>T	XP_006715565.1:p.His81Tyr
XM_011535900.1:c.241C>T	XP_011534202.1:p.His81Tyr
XM_005267019.4:c.127C>T	XP_005267076.1:p.His43Tyr
XM_006715502.2:c.241C>T	XP_006715565.1:p.His81Tyr
XM_017010934.2:c.241C>T	XP_016866423.1:p.His81Tyr
NM_000288.4:c.241C>T MANE Select	NP_000279.1:p.His81Tyr