Canonical Allele Identifier: CA398739429

Gene: PMP22

Linked Data

• ClinVar Variation Id: 580036
• ClinVar RCV Id: RCV000703465 ; RCV000857017
• dbSNP Id: rs773478255
• gnomAD v2: 17-15134241-C-G
• gnomAD v4: 17-15230924-C-G
• MyVariant Identifiers: chr17:g.15134241C>G (hg19) ; chr17:g.15230924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230924C>G , CM000679.2:g.15230924C>G	GRCh38
NC_000017.10:g.15134241C>G , CM000679.1:g.15134241C>G	GRCh37
NC_000017.9:g.15074966C>G	NCBI36
NG_007949.1:g.39404G>C , LRG_263:g.39404G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.476G>C MANE Select	ENSP00000308937.3:p.Arg159Pro
ENST00000395936.7:c.*185G>C	ENSP00000379268.1:n.*185G>C
ENST00000395938.7:c.465G>C	ENSP00000379269.3:p.Thr155=
ENST00000494511.7:c.272G>C	ENSP00000462782.2:p.Arg91Pro
ENST00000580584.3:c.272G>C	ENSP00000464468.3:p.Arg91Pro
ENST00000612492.5:c.476G>C	ENSP00000484631.1:p.Arg159Pro
ENST00000643451.2:c.*331G>C	ENSP00000494628.1:n.*331G>C
ENST00000644020.1:c.*185G>C	ENSP00000496522.1:n.*185G>C
ENST00000646419.2:c.*185G>C	ENSP00000494871.1:n.*185G>C
ENST00000674651.1:c.476G>C	ENSP00000501727.1:p.Arg159Pro
ENST00000674673.1:c.476G>C	ENSP00000501804.1:p.Arg159Pro
ENST00000674707.1:c.272G>C	ENSP00000502250.1:p.Arg91Pro
ENST00000674868.1:c.476G>C	ENSP00000502835.1:p.Arg159Pro
ENST00000674871.1:n.492G>C
ENST00000674947.1:c.465G>C	ENSP00000501580.1:p.Thr155=
ENST00000675197.1:n.456G>C
ENST00000675350.1:c.476G>C	ENSP00000501557.1:p.Arg159Pro
ENST00000675551.1:c.*145G>C	ENSP00000501945.1:n.*145G>C
ENST00000675808.1:c.476G>C	ENSP00000502310.1:p.Arg159Pro
ENST00000675819.1:c.476G>C	ENSP00000502018.1:p.Arg159Pro
ENST00000675854.1:c.272G>C	ENSP00000502324.1:p.Arg91Pro
ENST00000675950.1:c.476G>C	ENSP00000501546.1:p.Arg159Pro
ENST00000676002.1:n.469G>C
ENST00000676161.1:c.335G>C	ENSP00000501766.1:p.Arg112Pro
ENST00000676221.1:c.476G>C	ENSP00000502601.1:p.Arg159Pro
ENST00000676329.1:c.578G>C	ENSP00000501698.1:p.Arg193Pro
ENST00000312280.7:c.476G>C	ENSP00000308937.3:p.Arg159Pro
ENST00000395936.5:c.*185G>C	ENSP00000379268.1:n.*185G>C
ENST00000395938.6:c.476G>C	ENSP00000379269.2:p.Arg159Pro
ENST00000494511.5:c.297G>C	ENSP00000462782.1:p.Thr99=
ENST00000612492.4:c.476G>C	ENSP00000484631.1:p.Arg159Pro
NM_000304.3:c.476G>C	NP_000295.1:p.Arg159Pro
NM_001281455.1:c.476G>C	NP_001268384.1:p.Arg159Pro
NM_001281456.1:c.476G>C	NP_001268385.1:p.Arg159Pro
NM_153321.2:c.476G>C	NP_696996.1:p.Arg159Pro
NM_153322.2:c.476G>C	NP_696997.1:p.Arg159Pro
NR_104017.1:n.602G>C
NR_104018.1:n.502G>C
NM_000304.4:c.476G>C MANE Select	NP_000295.1:p.Arg159Pro
NM_001281456.2:c.476G>C	NP_001268385.1:p.Arg159Pro
NM_153321.3:c.476G>C	NP_696996.1:p.Arg159Pro
NM_153322.3:c.476G>C	NP_696997.1:p.Arg159Pro
NR_104017.2:n.571G>C
NR_104018.2:n.471G>C
NM_001281455.2:c.476G>C	NP_001268384.1:p.Arg159Pro