Canonical Allele Identifier: CA400478799

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683640-G-T
• MyVariant Identifiers: chr17:g.59761001G>T (hg19) ; chr17:g.61683640G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683640G>T , CM000679.2:g.61683640G>T	GRCh38
NC_000017.10:g.59761001G>T , CM000679.1:g.59761001G>T	GRCh37
NC_000017.9:g.57115783G>T	NCBI36
NG_007409.2:g.184920C>A , LRG_300:g.184920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2146C>A
ENST00000682453.1:c.3406C>A	ENSP00000506943.1:p.Leu1136Ile
ENST00000682477.1:c.*2832C>A	ENSP00000507075.1:n.*2832C>A
ENST00000682589.1:n.9283C>A
ENST00000682755.1:c.3184C>A	ENSP00000507660.1:p.Leu1062Ile
ENST00000682989.1:c.*497C>A	ENSP00000507786.1:n.*497C>A
ENST00000683039.1:c.3406C>A	ENSP00000508303.1:p.Leu1136Ile
ENST00000683235.1:c.*821C>A	ENSP00000507646.1:n.*821C>A
ENST00000683535.1:n.1536C>A
ENST00000684584.1:c.2569C>A	ENSP00000508044.1:p.Leu857Ile
ENST00000684626.1:n.1652C>A
ENST00000684769.1:c.1596C>A	ENSP00000507691.1:n.1596C>A
ENST00000259008.7:c.3406C>A MANE Select	ENSP00000259008.2:p.Leu1136Ile
ENST00000259008.6:c.3406C>A	ENSP00000259008.2:p.Leu1136Ile
NM_032043.2:c.3406C>A , LRG_300t1:c.3406C>A	NP_114432.2:p.Leu1136Ile
XM_011525332.1:c.3466C>A	XP_011523634.1:p.Leu1156Ile
XM_011525333.1:c.3466C>A	XP_011523635.1:p.Leu1156Ile
XM_011525334.1:c.3466C>A	XP_011523636.1:p.Leu1156Ile
XM_011525335.1:c.3406C>A	XP_011523637.1:p.Leu1136Ile
XM_011525336.1:c.3346C>A	XP_011523638.1:p.Leu1116Ile
XM_011525337.1:c.3265C>A	XP_011523639.1:p.Leu1089Ile
XM_011525338.1:c.2983C>A	XP_011523640.1:p.Leu995Ile
XM_011525332.3:c.3466C>A	XP_011523634.1:p.Leu1156Ile
XM_011525333.3:c.3466C>A	XP_011523635.1:p.Leu1156Ile
XM_011525334.2:c.3466C>A	XP_011523636.1:p.Leu1156Ile
XM_011525335.3:c.3406C>A	XP_011523637.1:p.Leu1136Ile
XM_011525336.2:c.3346C>A	XP_011523638.1:p.Leu1116Ile
XM_011525337.2:c.3265C>A	XP_011523639.1:p.Leu1089Ile
XM_011525338.2:c.2983C>A	XP_011523640.1:p.Leu995Ile
XM_017025200.1:c.2923C>A	XP_016880689.1:p.Leu975Ile
XM_017025201.1:c.2923C>A	XP_016880690.1:p.Leu975Ile
XM_017025202.1:c.1552C>A	XP_016880691.1:p.Leu518Ile
XM_017025203.1:c.1552C>A	XP_016880692.1:p.Leu518Ile
NM_032043.3:c.3406C>A MANE Select	NP_114432.2:p.Leu1136Ile