Canonical Allele Identifier: CA16615840

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 407822
• ClinVar RCV Id: RCV000468940 ; RCV003380573
• dbSNP Id: rs1060501748
• MyVariant Identifiers: chr17:g.59857655C>G (hg19) ; chr17:g.61780294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61780294C>G , CM000679.2:g.61780294C>G	GRCh38
NC_000017.10:g.59857655C>G , CM000679.1:g.59857655C>G	GRCh37
NC_000017.9:g.57212437C>G	NCBI36
NG_007409.2:g.88266G>C , LRG_300:g.88266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1484G>C	ENSP00000463827.2:n.1484G>C
ENST00000584322.2:c.1902G>C	ENSP00000463272.2:p.Gln634His
ENST00000682066.1:c.1395G>C	ENSP00000507191.1:p.Gln465His
ENST00000682073.1:n.642G>C
ENST00000682453.1:c.1902G>C	ENSP00000506943.1:p.Gln634His
ENST00000682477.1:c.*1328G>C	ENSP00000507075.1:n.*1328G>C
ENST00000682589.1:n.4081G>C
ENST00000682611.1:c.1395G>C	ENSP00000508326.1:p.Gln465His
ENST00000682755.1:c.1680G>C	ENSP00000507660.1:p.Gln560His
ENST00000682989.1:c.1902G>C	ENSP00000507786.1:p.Gln634His
ENST00000683039.1:c.1902G>C	ENSP00000508303.1:p.Gln634His
ENST00000683235.1:c.1902G>C	ENSP00000507646.1:p.Gln634His
ENST00000683381.1:c.1902G>C	ENSP00000508184.1:p.Gln634His
ENST00000684471.1:n.375G>C
ENST00000684584.1:c.1395G>C	ENSP00000508044.1:p.Gln465His
ENST00000259008.7:c.1902G>C MANE Select	ENSP00000259008.2:p.Gln634His
ENST00000259008.6:c.1902G>C	ENSP00000259008.2:p.Gln634His
ENST00000577598.5:c.1902G>C	ENSP00000464654.1:p.Gln634His
ENST00000579028.1:c.595G>C
NM_032043.2:c.1902G>C , LRG_300t1:c.1902G>C	NP_114432.2:p.Gln634His
XM_011525332.1:c.1902G>C	XP_011523634.1:p.Gln634His
XM_011525333.1:c.1902G>C	XP_011523635.1:p.Gln634His
XM_011525334.1:c.1902G>C	XP_011523636.1:p.Gln634His
XM_011525335.1:c.1902G>C	XP_011523637.1:p.Gln634His
XM_011525336.1:c.1902G>C	XP_011523638.1:p.Gln634His
XM_011525337.1:c.1794+546G>C	XP_011523639.1:n.1794+546G>C
XM_011525338.1:c.1419G>C	XP_011523640.1:p.Gln473His
XM_011525339.1:c.1902G>C	XP_011523641.1:p.Gln634His
XM_011525340.1:c.1902G>C	XP_011523642.1:p.Gln634His
XM_011525341.1:c.1902G>C	XP_011523643.1:p.Gln634His
XM_011525332.3:c.1902G>C	XP_011523634.1:p.Gln634His
XM_011525333.3:c.1902G>C	XP_011523635.1:p.Gln634His
XM_011525334.2:c.1902G>C	XP_011523636.1:p.Gln634His
XM_011525335.3:c.1902G>C	XP_011523637.1:p.Gln634His
XM_011525336.2:c.1902G>C	XP_011523638.1:p.Gln634His
XM_011525337.2:c.1794+546G>C	XP_011523639.1:n.1794+546G>C
XM_011525338.2:c.1419G>C	XP_011523640.1:p.Gln473His
XM_011525339.3:c.1902G>C	XP_011523641.1:p.Gln634His
XM_011525340.3:c.1902G>C	XP_011523642.1:p.Gln634His
XM_011525341.3:c.1902G>C	XP_011523643.1:p.Gln634His
XM_017025200.1:c.1419G>C	XP_016880689.1:p.Gln473His
XM_017025201.1:c.1359G>C	XP_016880690.1:p.Gln453His
XM_017025203.1:c.-59G>C	XP_016880692.1:n.-59G>C
NM_032043.3:c.1902G>C MANE Select	NP_114432.2:p.Gln634His