Canonical Allele Identifier: CA365763979

Gene: PEX7

Linked Data

• dbSNP Id: rs1215022514
• gnomAD v2: 6-137191055-T-C
• gnomAD v3: 6-136869917-T-C
• gnomAD v4: 6-136869917-T-C
• MyVariant Identifiers: chr6:g.137191055T>C (hg19) ; chr6:g.136869917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869917T>C , CM000668.2:g.136869917T>C	GRCh38
NC_000006.11:g.137191055T>C , CM000668.1:g.137191055T>C	GRCh37
NC_000006.10:g.137232748T>C	NCBI36
NG_008462.1:g.52338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.661T>C MANE Select	ENSP00000315680.3:p.Cys221Arg
ENST00000541292.6:c.661T>C	ENSP00000441004.1:p.Cys221Arg
ENST00000678002.1:c.349T>C
ENST00000678557.1:c.547T>C	ENSP00000502962.1:p.Cys183Arg
ENST00000678593.1:c.666T>C	ENSP00000503841.1:n.666T>C
ENST00000679286.1:c.541T>C	ENSP00000503168.1:p.Cys181Arg
ENST00000318471.4:c.661T>C	ENSP00000315680.3:p.Cys221Arg
ENST00000541292.5:c.661T>C	ENSP00000441004.1:p.Cys221Arg
NM_000288.3:c.661T>C	NP_000279.1:p.Cys221Arg
XM_005267019.3:c.547T>C	XP_005267076.1:p.Cys183Arg
XM_006715502.1:c.367T>C	XP_006715565.1:p.Cys123Arg
XM_011535900.1:c.526+23736T>C	XP_011534202.1:n.526+23736T>C
XM_005267019.4:c.547T>C	XP_005267076.1:p.Cys183Arg
XM_006715502.2:c.367T>C	XP_006715565.1:p.Cys123Arg
XM_017010934.2:c.526+23736T>C	XP_016866423.1:n.526+23736T>C
NM_000288.4:c.661T>C MANE Select	NP_000279.1:p.Cys221Arg