Canonical Allele Identifier: CA12358203
Gene: PERP HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.138096278T>C
GRCh37 chr6:g.138417415T>C
gnomAD v2:
6:138417415 T / C
gnomAD v3:
6:138096278 T / C
gnomAD v4:
chr6-138096278-T-C
Joint Max Group AF 0.48634091 (NFE)
Genomes Max Group AF 0.4809426 (NFE)
Exomes Max Group AF 0.48644134 (NFE)
dbSNP:
2484067
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.138096278T>C , CM000668.2:g.138096278T>C GRCh38
NC_000006.11:g.138417415T>C , CM000668.1:g.138417415T>C GRCh37
NC_000006.10:g.138459108T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421351.4:c.355+76A>G MANE Select ENSP00000397157.2:n.355+76A>G
ENST00000421351.3:c.355+76A>G ENSP00000397157.2:n.355+76A>G
NM_022121.4:c.355+76A>G NP_071404.2:n.355+76A>G
XM_024446520.1:c.118+76A>G XP_024302288.1:n.118+76A>G
NM_022121.5:c.355+76A>G MANE Select NP_071404.2:n.355+76A>G
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