Canonical Allele Identifier: CA643594744

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs1201712100
• gnomAD v2: X-103044216-T-TA
• gnomAD v4: X-103789287-T-TA
• MyVariant Identifiers: chrX:g.103044216_103044217insA (hg19) ; chrX:g.103789287_103789288insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789288dup , CM000685.2:g.103789288dup	GRCh38
NC_000023.10:g.103044217dup , CM000685.1:g.103044217dup	GRCh37
NC_000023.9:g.102930873dup	NCBI36
NG_008863.2:g.17778dup
NG_016452.2:g.47995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.697-45dup (PLP1) MANE Select	ENSP00000484450.1:n.697-45dup
ENST00000461231.5:n.508-45dup (PLP1)
ENST00000466486.1:n.533-45dup (PLP1)
ENST00000485688.5:n.434-45dup (PLP1)
ENST00000496836.1:n.382dup (PLP1)
ENST00000612423.4:c.697-45dup (PLP1)	ENSP00000481006.1:n.697-45dup
ENST00000619236.1:c.592-45dup (PLP1)	ENSP00000477619.1:n.592-45dup
ENST00000621218.4:c.697-45dup (PLP1)	ENSP00000484450.1:n.697-45dup
NM_000533.4:c.697-45dup (PLP1)	NP_000524.3:n.697-45dup
NM_001128834.2:c.697-45dup (PLP1)	NP_001122306.1:n.697-45dup
NM_001305004.1:c.532-45dup (PLP1)	NP_001291933.1:n.532-45dup
NM_199478.2:c.592-45dup (PLP1)	NP_955772.1:n.592-45dup
XR_244483.3:n.862+3393dup
NR_146558.1:n.457+3393dup (RAB9B)
NR_146560.1:n.743+3393dup (RAB9B)
NM_000533.5:c.697-45dup (PLP1) MANE Select	NP_000524.3:n.697-45dup
NM_199478.3:c.592-45dup (PLP1)	NP_955772.1:n.592-45dup
NM_001128834.3:c.697-45dup (PLP1)	NP_001122306.1:n.697-45dup
NR_146558.2:n.432+3393dup (RAB9B)
NR_146560.2:n.718+3393dup (RAB9B)