Canonical Allele Identifier: CA363652633
Gene: BAK1 HGNC NCBI
GGNBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33543126A>G (hg19) chr6:g.33575349A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33575349A>G , CM000668.2:g.33575349A>G GRCh38
NC_000006.11:g.33543126A>G , CM000668.1:g.33543126A>G GRCh37
NC_000006.10:g.33651104A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374467.4:c.299T>C (BAK1) MANE Select ENSP00000363591.3:p.Leu100Pro
ENST00000360661.9:c.239T>C (BAK1) ENSP00000353878.6:p.Leu80Pro
ENST00000374467.3:c.299T>C (BAK1) ENSP00000363591.3:p.Leu100Pro
ENST00000442998.6:c.299T>C (BAK1) ENSP00000391258.2:p.Leu100Pro
ENST00000612409.1:n.249-2A>G (GGNBP1)
NM_001188.3:c.299T>C (BAK1) NP_001179.1:p.Leu100Pro
XM_011514779.1:c.299T>C (BAK1) XP_011513081.1:p.Leu100Pro
XM_011514780.1:c.122T>C (BAK1) XP_011513082.1:p.Leu41Pro
XM_011514779.3:c.299T>C (BAK1) XP_011513081.1:p.Leu100Pro
NM_001188.4:c.299T>C (BAK1) MANE Select NP_001179.1:p.Leu100Pro
Search 100 bp 5'
Search 100 bp 3'