Canonical Allele Identifier: CA4417986

Gene: PMPCB

Linked Data

• ClinVar Variation Id: 523138
• ClinVar RCV Id: RCV000626411 ; RCV001267319 ; RCV001249736 ; RCV003727788
• dbSNP Id: rs145596167
• ExAC: 7:102944354 C / T
• gnomAD v2: 7-102944354-C-T
• gnomAD v3: 7-103303907-C-T
• gnomAD v4: 7-103303907-C-T
• MyVariant Identifiers: chr7:g.102944354C>T (hg19) ; chr7:g.103303907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103303907C>T , CM000669.2:g.103303907C>T	GRCh38
NC_000007.13:g.102944354C>T , CM000669.1:g.102944354C>T	GRCh37
NC_000007.12:g.102731590C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469560.2:n.563C>T
ENST00000706437.1:c.523C>T	ENSP00000516380.1:p.Arg175Cys
ENST00000706438.1:n.563C>T
ENST00000706439.1:c.523C>T	ENSP00000516381.1:p.Arg175Cys
ENST00000706440.1:c.523C>T	ENSP00000516382.1:p.Arg175Cys
ENST00000706441.1:n.563C>T
ENST00000706442.1:c.523C>T	ENSP00000516383.1:p.Arg175Cys
ENST00000706443.1:c.523C>T	ENSP00000516384.1:p.Arg175Cys
ENST00000706447.1:c.523C>T	ENSP00000516385.1:p.Arg175Cys
ENST00000706448.1:c.523C>T	ENSP00000516386.1:p.Arg175Cys
ENST00000706449.1:c.523C>T	ENSP00000516387.1:p.Arg175Cys
ENST00000706450.1:c.523C>T	ENSP00000516388.1:p.Arg175Cys
ENST00000706451.1:c.523C>T	ENSP00000516389.1:p.Arg175Cys
ENST00000706452.1:c.523C>T	ENSP00000516390.1:p.Arg175Cys
ENST00000706453.1:c.523C>T	ENSP00000516391.1:p.Arg175Cys
ENST00000706454.1:c.523C>T	ENSP00000516392.1:p.Arg175Cys
ENST00000706455.1:n.4082C>T
ENST00000706456.1:c.457+3600C>T	ENSP00000516393.1:n.457+3600C>T
ENST00000706457.1:c.*549C>T	ENSP00000516394.1:n.*549C>T
ENST00000706458.1:n.1261C>T
ENST00000706459.1:c.457+3600C>T	ENSP00000516395.1:n.457+3600C>T
ENST00000706460.1:c.750C>T	ENSP00000516396.1:n.750C>T
ENST00000706461.1:n.673C>T
ENST00000249269.9:c.523C>T MANE Select	ENSP00000249269.4:p.Arg175Cys
ENST00000249269.8:c.523C>T	ENSP00000249269.4:p.Arg175Cys
ENST00000428154.5:c.523C>T	ENSP00000390035.1:p.Arg175Cys
ENST00000443722.5:c.*158C>T	ENSP00000402859.1:n.*158C>T
ENST00000444457.5:c.*549C>T	ENSP00000388934.1:n.*549C>T
ENST00000453466.1:c.*158C>T	ENSP00000408682.1:n.*158C>T
ENST00000456433.5:c.458-79C>T	ENSP00000397884.1:n.458-79C>T
ENST00000498530.5:n.527C>T
NM_004279.2:c.523C>T	NP_004270.2:p.Arg175Cys
XM_005250717.2:c.523C>T	XP_005250774.1:p.Arg175Cys
XM_006716181.2:c.523C>T	XP_006716244.1:p.Arg175Cys
XR_242267.3:n.556C>T
XM_005250717.4:c.523C>T	XP_005250774.1:p.Arg175Cys
XM_006716181.4:c.523C>T	XP_006716244.1:p.Arg175Cys
XR_242267.5:n.548C>T
NM_004279.3:c.523C>T MANE Select	NP_004270.2:p.Arg175Cys