Canonical Allele Identifier: CA8403277
Gene: PMP22 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 321859
dbSNP Id: rs13422

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15230858T>G , CM000679.2:g.15230858T>G GRCh38
NC_000017.10:g.15134175T>G , CM000679.1:g.15134175T>G GRCh37
NC_000017.9:g.15074900T>G NCBI36
NG_007949.1:g.39470A>C , LRG_263:g.39470A>C

Transcript Alleles

HGVS Amino-acid change
NM_000304.3:c.*59A>C VV NP_000295.1:p.=
NM_001281455.1:c.*59A>C VV NP_001268384.1:p.=
NM_001281456.1:c.*59A>C VV NP_001268385.1:p.=
NM_153321.2:c.*59A>C VV NP_696996.1:p.=
NM_153322.2:c.*59A>C VV NP_696997.1:p.=
NR_104017.1:n.668A>C
NR_104018.1:n.568A>C
NM_000304.4:c.*59A>C VV MANE Preferred
ENST00000312280.7:c.*59A>C ENSP00000308937.3:p.=
ENST00000395936.5:c.*251A>C ENSP00000379268.1:p.=
ENST00000395938.6:c.*59A>C ENSP00000379269.2:p.=
ENST00000494511.5:c.363A>C ENSP00000462782.1:p.Lys121Asn
ENST00000612492.4:c.*59A>C ENSP00000484631.1:p.=