Canonical Allele Identifier: CA400479001

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761094A>C (hg19) ; chr17:g.61683733A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683733A>C , CM000679.2:g.61683733A>C	GRCh38
NC_000017.10:g.59761094A>C , CM000679.1:g.59761094A>C	GRCh37
NC_000017.9:g.57115876A>C	NCBI36
NG_007409.2:g.184827T>G , LRG_300:g.184827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2053T>G
ENST00000682453.1:c.3313T>G	ENSP00000506943.1:p.Leu1105Val
ENST00000682477.1:c.*2739T>G	ENSP00000507075.1:n.*2739T>G
ENST00000682589.1:n.9190T>G
ENST00000682755.1:c.3091T>G	ENSP00000507660.1:p.Leu1031Val
ENST00000682989.1:c.*404T>G	ENSP00000507786.1:n.*404T>G
ENST00000683039.1:c.3313T>G	ENSP00000508303.1:p.Leu1105Val
ENST00000683235.1:c.*728T>G	ENSP00000507646.1:n.*728T>G
ENST00000683535.1:n.1443T>G
ENST00000684584.1:c.2476T>G	ENSP00000508044.1:p.Leu826Val
ENST00000684626.1:n.1559T>G
ENST00000684769.1:c.1503T>G	ENSP00000507691.1:n.1503T>G
ENST00000259008.7:c.3313T>G MANE Select	ENSP00000259008.2:p.Leu1105Val
ENST00000259008.6:c.3313T>G	ENSP00000259008.2:p.Leu1105Val
NM_032043.2:c.3313T>G , LRG_300t1:c.3313T>G	NP_114432.2:p.Leu1105Val
XM_011525332.1:c.3373T>G	XP_011523634.1:p.Leu1125Val
XM_011525333.1:c.3373T>G	XP_011523635.1:p.Leu1125Val
XM_011525334.1:c.3373T>G	XP_011523636.1:p.Leu1125Val
XM_011525335.1:c.3313T>G	XP_011523637.1:p.Leu1105Val
XM_011525336.1:c.3253T>G	XP_011523638.1:p.Leu1085Val
XM_011525337.1:c.3172T>G	XP_011523639.1:p.Leu1058Val
XM_011525338.1:c.2890T>G	XP_011523640.1:p.Leu964Val
XM_011525332.3:c.3373T>G	XP_011523634.1:p.Leu1125Val
XM_011525333.3:c.3373T>G	XP_011523635.1:p.Leu1125Val
XM_011525334.2:c.3373T>G	XP_011523636.1:p.Leu1125Val
XM_011525335.3:c.3313T>G	XP_011523637.1:p.Leu1105Val
XM_011525336.2:c.3253T>G	XP_011523638.1:p.Leu1085Val
XM_011525337.2:c.3172T>G	XP_011523639.1:p.Leu1058Val
XM_011525338.2:c.2890T>G	XP_011523640.1:p.Leu964Val
XM_017025200.1:c.2830T>G	XP_016880689.1:p.Leu944Val
XM_017025201.1:c.2830T>G	XP_016880690.1:p.Leu944Val
XM_017025202.1:c.1459T>G	XP_016880691.1:p.Leu487Val
XM_017025203.1:c.1459T>G	XP_016880692.1:p.Leu487Val
NM_032043.3:c.3313T>G MANE Select	NP_114432.2:p.Leu1105Val