Canonical Allele Identifier: CA400478420

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144073081
• gnomAD v4: 17-61683522-G-C
• MyVariant Identifiers: chr17:g.59760883G>C (hg19) ; chr17:g.61683522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683522G>C , CM000679.2:g.61683522G>C	GRCh38
NC_000017.10:g.59760883G>C , CM000679.1:g.59760883G>C	GRCh37
NC_000017.9:g.57115665G>C	NCBI36
NG_007409.2:g.185038C>G , LRG_300:g.185038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2264C>G
ENST00000682453.1:c.3524C>G	ENSP00000506943.1:p.Thr1175Ser
ENST00000682477.1:c.*2950C>G	ENSP00000507075.1:n.*2950C>G
ENST00000682589.1:n.9401C>G
ENST00000682755.1:c.3302C>G	ENSP00000507660.1:p.Thr1101Ser
ENST00000682989.1:c.*615C>G	ENSP00000507786.1:n.*615C>G
ENST00000683039.1:c.3524C>G	ENSP00000508303.1:p.Thr1175Ser
ENST00000683235.1:c.*939C>G	ENSP00000507646.1:n.*939C>G
ENST00000683535.1:n.1654C>G
ENST00000684584.1:c.2687C>G	ENSP00000508044.1:p.Thr896Ser
ENST00000684626.1:n.1770C>G
ENST00000684769.1:c.1714C>G	ENSP00000507691.1:n.1714C>G
ENST00000259008.7:c.3524C>G MANE Select	ENSP00000259008.2:p.Thr1175Ser
ENST00000259008.6:c.3524C>G	ENSP00000259008.2:p.Thr1175Ser
NM_032043.2:c.3524C>G , LRG_300t1:c.3524C>G	NP_114432.2:p.Thr1175Ser
XM_011525332.1:c.3584C>G	XP_011523634.1:p.Thr1195Ser
XM_011525333.1:c.3584C>G	XP_011523635.1:p.Thr1195Ser
XM_011525334.1:c.3584C>G	XP_011523636.1:p.Thr1195Ser
XM_011525335.1:c.3524C>G	XP_011523637.1:p.Thr1175Ser
XM_011525336.1:c.3464C>G	XP_011523638.1:p.Thr1155Ser
XM_011525337.1:c.3383C>G	XP_011523639.1:p.Thr1128Ser
XM_011525338.1:c.3101C>G	XP_011523640.1:p.Thr1034Ser
XM_011525332.3:c.3584C>G	XP_011523634.1:p.Thr1195Ser
XM_011525333.3:c.3584C>G	XP_011523635.1:p.Thr1195Ser
XM_011525334.2:c.3584C>G	XP_011523636.1:p.Thr1195Ser
XM_011525335.3:c.3524C>G	XP_011523637.1:p.Thr1175Ser
XM_011525336.2:c.3464C>G	XP_011523638.1:p.Thr1155Ser
XM_011525337.2:c.3383C>G	XP_011523639.1:p.Thr1128Ser
XM_011525338.2:c.3101C>G	XP_011523640.1:p.Thr1034Ser
XM_017025200.1:c.3041C>G	XP_016880689.1:p.Thr1014Ser
XM_017025201.1:c.3041C>G	XP_016880690.1:p.Thr1014Ser
XM_017025202.1:c.1670C>G	XP_016880691.1:p.Thr557Ser
XM_017025203.1:c.1670C>G	XP_016880692.1:p.Thr557Ser
NM_032043.3:c.3524C>G MANE Select	NP_114432.2:p.Thr1175Ser