Canonical Allele Identifier: CA365763951

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137191040A>C (hg19) ; chr6:g.136869902A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869902A>C , CM000668.2:g.136869902A>C	GRCh38
NC_000006.11:g.137191040A>C , CM000668.1:g.137191040A>C	GRCh37
NC_000006.10:g.137232733A>C	NCBI36
NG_008462.1:g.52323A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.646A>C MANE Select	ENSP00000315680.3:p.Thr216Pro
ENST00000541292.6:c.646A>C	ENSP00000441004.1:p.Thr216Pro
ENST00000678002.1:c.334A>C
ENST00000678557.1:c.532A>C	ENSP00000502962.1:p.Thr178Pro
ENST00000678593.1:c.651A>C	ENSP00000503841.1:n.651A>C
ENST00000679286.1:c.526A>C	ENSP00000503168.1:p.Thr176Pro
ENST00000318471.4:c.646A>C	ENSP00000315680.3:p.Thr216Pro
ENST00000541292.5:c.646A>C	ENSP00000441004.1:p.Thr216Pro
NM_000288.3:c.646A>C	NP_000279.1:p.Thr216Pro
XM_005267019.3:c.532A>C	XP_005267076.1:p.Thr178Pro
XM_006715502.1:c.352A>C	XP_006715565.1:p.Thr118Pro
XM_011535900.1:c.526+23721A>C	XP_011534202.1:n.526+23721A>C
XM_005267019.4:c.532A>C	XP_005267076.1:p.Thr178Pro
XM_006715502.2:c.352A>C	XP_006715565.1:p.Thr118Pro
XM_017010934.2:c.526+23721A>C	XP_016866423.1:n.526+23721A>C
NM_000288.4:c.646A>C MANE Select	NP_000279.1:p.Thr216Pro