Canonical Allele Identifier: CA2579667912

Gene: PLP1 RAB9B

Linked Data

• gnomAD v4: X-103789279-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789279G>C , CM000685.2:g.103789279G>C	GRCh38
NC_000023.10:g.103044208G>C , CM000685.1:g.103044208G>C	GRCh37
NC_000023.9:g.102930864G>C	NCBI36
NG_008863.2:g.17769G>C
NG_016452.2:g.48004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.697-54G>C (PLP1) MANE Select	ENSP00000484450.1:n.697-54G>C
ENST00000461231.5:n.508-54G>C (PLP1)
ENST00000466486.1:n.533-54G>C (PLP1)
ENST00000485688.5:n.434-54G>C (PLP1)
ENST00000496836.1:n.373G>C (PLP1)
ENST00000612423.4:c.697-54G>C (PLP1)	ENSP00000481006.1:n.697-54G>C
ENST00000619236.1:c.592-54G>C (PLP1)	ENSP00000477619.1:n.592-54G>C
ENST00000621218.4:c.697-54G>C (PLP1)	ENSP00000484450.1:n.697-54G>C
NM_000533.4:c.697-54G>C (PLP1)	NP_000524.3:n.697-54G>C
NM_001128834.2:c.697-54G>C (PLP1)	NP_001122306.1:n.697-54G>C
NM_001305004.1:c.532-54G>C (PLP1)	NP_001291933.1:n.532-54G>C
NM_199478.2:c.592-54G>C (PLP1)	NP_955772.1:n.592-54G>C
XR_244483.3:n.862+3402C>G
NR_146558.1:n.457+3402C>G (RAB9B)
NR_146560.1:n.743+3402C>G (RAB9B)
NM_000533.5:c.697-54G>C (PLP1) MANE Select	NP_000524.3:n.697-54G>C
NM_199478.3:c.592-54G>C (PLP1)	NP_955772.1:n.592-54G>C
NM_001128834.3:c.697-54G>C (PLP1)	NP_001122306.1:n.697-54G>C
NR_146558.2:n.432+3402C>G (RAB9B)
NR_146560.2:n.718+3402C>G (RAB9B)