Canonical Allele Identifier: CA2636216184

Gene: PMP22

Linked Data

• gnomAD v4: 17-15230668-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230668G>T , CM000679.2:g.15230668G>T	GRCh38
NC_000017.10:g.15133985G>T , CM000679.1:g.15133985G>T	GRCh37
NC_000017.9:g.15074710G>T	NCBI36
NG_007949.1:g.39660C>A , LRG_263:g.39660C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.*249C>A MANE Select	ENSP00000308937.3:n.*249C>A
ENST00000395936.7:c.*441C>A	ENSP00000379268.1:n.*441C>A
ENST00000395938.7:c.*67C>A	ENSP00000379269.3:n.*67C>A
ENST00000494511.7:c.*249C>A	ENSP00000462782.2:n.*249C>A
ENST00000580584.3:c.*249C>A	ENSP00000464468.3:n.*249C>A
ENST00000612492.5:c.*249C>A	ENSP00000484631.1:n.*249C>A
ENST00000643451.2:c.*587C>A	ENSP00000494628.1:n.*587C>A
ENST00000644020.1:c.*441C>A	ENSP00000496522.1:n.*441C>A
ENST00000646419.2:c.*441C>A	ENSP00000494871.1:n.*441C>A
ENST00000674651.1:c.*249C>A	ENSP00000501727.1:n.*249C>A
ENST00000674673.1:c.*249C>A	ENSP00000501804.1:n.*249C>A
ENST00000674707.1:c.*249C>A	ENSP00000502250.1:n.*249C>A
ENST00000674871.1:n.748C>A
ENST00000674947.1:c.*67C>A	ENSP00000501580.1:n.*67C>A
ENST00000675197.1:n.712C>A
ENST00000675551.1:c.*401C>A	ENSP00000501945.1:n.*401C>A
ENST00000675808.1:c.*249C>A	ENSP00000502310.1:n.*249C>A
ENST00000675819.1:c.*249C>A	ENSP00000502018.1:n.*249C>A
ENST00000675854.1:c.*249C>A	ENSP00000502324.1:n.*249C>A
ENST00000675950.1:c.*249C>A	ENSP00000501546.1:n.*249C>A
ENST00000676002.1:n.725C>A
ENST00000676161.1:c.*249C>A	ENSP00000501766.1:n.*249C>A
ENST00000676221.1:c.*249C>A	ENSP00000502601.1:n.*249C>A
ENST00000676329.1:c.*249C>A	ENSP00000501698.1:n.*249C>A
ENST00000312280.7:c.*249C>A	ENSP00000308937.3:n.*249C>A
ENST00000395938.6:c.*249C>A	ENSP00000379269.2:n.*249C>A
ENST00000494511.5:c.*67C>A	ENSP00000462782.1:n.*67C>A
ENST00000612492.4:c.*249C>A	ENSP00000484631.1:n.*249C>A
NM_000304.3:c.*249C>A	NP_000295.1:n.*249C>A
NM_001281455.1:c.*249C>A	NP_001268384.1:n.*249C>A
NM_001281456.1:c.*249C>A	NP_001268385.1:n.*249C>A
NM_153321.2:c.*249C>A	NP_696996.1:n.*249C>A
NM_153322.2:c.*249C>A	NP_696997.1:n.*249C>A
NR_104017.1:n.858C>A
NR_104018.1:n.758C>A
NM_000304.4:c.*249C>A MANE Select	NP_000295.1:n.*249C>A
NM_001281456.2:c.*249C>A	NP_001268385.1:n.*249C>A
NM_153321.3:c.*249C>A	NP_696996.1:n.*249C>A
NM_153322.3:c.*249C>A	NP_696997.1:n.*249C>A
NR_104017.2:n.827C>A
NR_104018.2:n.727C>A
NM_001281455.2:c.*249C>A	NP_001268384.1:n.*249C>A