Canonical Allele Identifier: CA365763942

Gene: PEX7

Linked Data

• ClinVar Variation Id: 436287
• ClinVar RCV Id: RCV000502761 ; RCV001865618
• dbSNP Id: rs1554333880
• MyVariant Identifiers: chr6:g.137191035T>C (hg19) ; chr6:g.136869897T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869897T>C , CM000668.2:g.136869897T>C	GRCh38
NC_000006.11:g.137191035T>C , CM000668.1:g.137191035T>C	GRCh37
NC_000006.10:g.137232728T>C	NCBI36
NG_008462.1:g.52318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.641T>C MANE Select	ENSP00000315680.3:p.Leu214Pro
ENST00000541292.6:c.641T>C	ENSP00000441004.1:p.Leu214Pro
ENST00000678002.1:c.329T>C
ENST00000678557.1:c.527T>C	ENSP00000502962.1:p.Leu176Pro
ENST00000678593.1:c.646T>C	ENSP00000503841.1:n.646T>C
ENST00000679286.1:c.521T>C	ENSP00000503168.1:p.Leu174Pro
ENST00000318471.4:c.641T>C	ENSP00000315680.3:p.Leu214Pro
ENST00000541292.5:c.641T>C	ENSP00000441004.1:p.Leu214Pro
NM_000288.3:c.641T>C	NP_000279.1:p.Leu214Pro
XM_005267019.3:c.527T>C	XP_005267076.1:p.Leu176Pro
XM_006715502.1:c.347T>C	XP_006715565.1:p.Leu116Pro
XM_011535900.1:c.526+23716T>C	XP_011534202.1:n.526+23716T>C
XM_005267019.4:c.527T>C	XP_005267076.1:p.Leu176Pro
XM_006715502.2:c.347T>C	XP_006715565.1:p.Leu116Pro
XM_017010934.2:c.526+23716T>C	XP_016866423.1:n.526+23716T>C
NM_000288.4:c.641T>C MANE Select	NP_000279.1:p.Leu214Pro