Canonical Allele Identifier: CA7806757

Gene: BAIAP3

Linked Data

• ClinVar Variation Id: 2353044
• ClinVar RCV Id: RCV002964697
• dbSNP Id: rs142821453
• ExAC: 16:1397721 G / A
• gnomAD v2: 16-1397721-G-A
• gnomAD v3: 16-1347720-G-A
• gnomAD v4: 16-1347720-G-A
• MyVariant Identifiers: chr16:g.1397721G>A (hg19) ; chr16:g.1347720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1347720G>A , CM000678.2:g.1347720G>A	GRCh38
NC_000016.9:g.1397721G>A , CM000678.1:g.1397721G>A	GRCh37
NC_000016.8:g.1337722G>A	NCBI36
NG_016985.1:g.822G>A
NG_033974.1:g.19116G>A
NG_033974.2:g.19116G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561793.2:c.2106G>A
ENST00000564213.2:c.*118G>A	ENSP00000518583.1:n.*118G>A
ENST00000565665.6:n.3188G>A
ENST00000567203.2:n.3543G>A
ENST00000568198.2:n.1705G>A
ENST00000711102.1:c.2924G>A	ENSP00000518580.1:p.Arg975Gln
ENST00000711103.1:c.*1107G>A	ENSP00000518581.1:n.*1107G>A
ENST00000711104.1:c.*118G>A	ENSP00000518582.1:n.*118G>A
ENST00000711105.1:c.2861G>A	ENSP00000518584.1:p.Arg954Gln
ENST00000711106.1:c.1583G>A	ENSP00000518585.1:p.Arg528Gln
ENST00000711107.1:c.1520G>A	ENSP00000518586.1:p.Arg507Gln
ENST00000711108.1:c.1583G>A	ENSP00000518587.1:p.Arg528Gln
ENST00000711109.1:c.*965G>A	ENSP00000518588.1:n.*965G>A
ENST00000711110.1:c.242G>A	ENSP00000518589.1:p.Arg81Gln
ENST00000711111.1:n.3266G>A
ENST00000426824.8:c.2924G>A MANE Select	ENSP00000407242.4:p.Arg975Gln
ENST00000324385.9:c.3029G>A	ENSP00000324510.5:p.Arg1010Gln
ENST00000397488.6:c.2975G>A	ENSP00000380625.2:p.Arg992Gln
ENST00000421665.6:c.2816G>A	ENSP00000409533.2:p.Arg939Gln
ENST00000426824.7:c.2924G>A	ENSP00000407242.3:p.Arg975Gln
ENST00000562208.5:c.2855G>A	ENSP00000458134.1:p.Arg952Gln
ENST00000566162.1:c.626+1500G>A
ENST00000566389.1:n.410G>A
ENST00000568887.5:c.2840G>A	ENSP00000457644.1:p.Arg947Gln
ENST00000628027.2:c.2975G>A	ENSP00000487275.1:p.Arg992Gln
NM_001199096.1:c.2816G>A	NP_001186025.1:p.Arg939Gln
NM_001199097.1:c.2924G>A	NP_001186026.1:p.Arg975Gln
NM_001199098.1:c.2855G>A	NP_001186027.1:p.Arg952Gln
NM_001199099.1:c.2840G>A	NP_001186028.1:p.Arg947Gln
NM_001286464.1:c.2975G>A	NP_001273393.1:p.Arg992Gln
NM_003933.4:c.3029G>A	NP_003924.2:p.Arg1010Gln
XM_011522728.1:c.3080G>A	XP_011521030.1:p.Arg1027Gln
XM_011522729.1:c.3080G>A	XP_011521031.1:p.Arg1027Gln
XM_011522730.1:c.3080G>A	XP_011521032.1:p.Arg1027Gln
XM_011522730.2:c.3080G>A	XP_011521032.1:p.Arg1027Gln
NM_001199097.2:c.2924G>A MANE Select	NP_001186026.1:p.Arg975Gln
NM_001199098.2:c.2855G>A	NP_001186027.1:p.Arg952Gln
NM_001199099.2:c.2840G>A	NP_001186028.1:p.Arg947Gln
NM_001286464.2:c.2975G>A	NP_001273393.2:p.Arg992Gln
NM_001199096.2:c.2816G>A	NP_001186025.1:p.Arg939Gln
NM_003933.5:c.3029G>A	NP_003924.2:p.Arg1010Gln