Canonical Allele Identifier: CA363652592

Gene: BAK1 GGNBP1

Linked Data

• MyVariant Identifiers: chr6:g.33543121G>C (hg19) ; chr6:g.33575344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33575344G>C , CM000668.2:g.33575344G>C	GRCh38
NC_000006.11:g.33543121G>C , CM000668.1:g.33543121G>C	GRCh37
NC_000006.10:g.33651099G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374467.4:c.304C>G (BAK1) MANE Select	ENSP00000363591.3:p.Pro102Ala
ENST00000360661.9:c.244C>G (BAK1)	ENSP00000353878.6:p.Pro82Ala
ENST00000374467.3:c.304C>G (BAK1)	ENSP00000363591.3:p.Pro102Ala
ENST00000442998.6:c.304C>G (BAK1)	ENSP00000391258.2:p.Pro102Ala
ENST00000612409.1:n.249-7G>C (GGNBP1)
NM_001188.3:c.304C>G (BAK1)	NP_001179.1:p.Pro102Ala
XM_011514779.1:c.304C>G (BAK1)	XP_011513081.1:p.Pro102Ala
XM_011514780.1:c.127C>G (BAK1)	XP_011513082.1:p.Pro43Ala
XM_011514779.3:c.304C>G (BAK1)	XP_011513081.1:p.Pro102Ala
NM_001188.4:c.304C>G (BAK1) MANE Select	NP_001179.1:p.Pro102Ala