Canonical Allele Identifier: CA292273048

Gene: BRIP1

Linked Data

• dbSNP Id: rs150160736
• gnomAD v3: 17-61758710-C-A
• gnomAD v4: 17-61758710-C-A
• MyVariant Identifiers: chr17:g.59836071C>A (hg19) ; chr17:g.61758710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61758710C>A , CM000679.2:g.61758710C>A	GRCh38
NC_000017.10:g.59836071C>A , CM000679.1:g.59836071C>A	GRCh37
NC_000017.9:g.57190853C>A	NCBI36
NG_007409.2:g.109850G>T , LRG_300:g.109850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1680-14119G>T	ENSP00000463827.2:n.1680-14119G>T
ENST00000584322.2:c.2098-14119G>T	ENSP00000463272.2:n.2098-14119G>T
ENST00000682066.1:c.2191G>T	ENSP00000507191.1:n.2191G>T
ENST00000682073.1:n.838-14119G>T
ENST00000682433.1:n.1177-14119G>T
ENST00000682453.1:c.2098-14119G>T	ENSP00000506943.1:n.2098-14119G>T
ENST00000682477.1:c.*1524-14119G>T	ENSP00000507075.1:n.*1524-14119G>T
ENST00000682589.1:n.7975-14119G>T
ENST00000682755.1:c.1876-14119G>T	ENSP00000507660.1:n.1876-14119G>T
ENST00000682989.1:c.2098-14119G>T	ENSP00000507786.1:n.2098-14119G>T
ENST00000683039.1:c.2098-14119G>T	ENSP00000508303.1:n.2098-14119G>T
ENST00000683235.1:c.2098-14119G>T	ENSP00000507646.1:n.2098-14119G>T
ENST00000683381.1:c.2158-14119G>T	ENSP00000508184.1:n.2158-14119G>T
ENST00000683535.1:n.228-14119G>T
ENST00000684471.1:n.511-14119G>T
ENST00000684584.1:c.1591-14119G>T	ENSP00000508044.1:n.1591-14119G>T
ENST00000684769.1:c.163-14119G>T	ENSP00000507691.1:n.163-14119G>T
ENST00000259008.7:c.2098-14119G>T MANE Select	ENSP00000259008.2:n.2098-14119G>T
ENST00000259008.6:c.2098-14119G>T	ENSP00000259008.2:n.2098-14119G>T
ENST00000577598.5:c.2098-14119G>T	ENSP00000464654.1:n.2098-14119G>T
ENST00000584322.1:c.81-14119G>T
NM_032043.2:c.2098-14119G>T , LRG_300t1:c.2098-14119G>T	NP_114432.2:n.2098-14119G>T
XM_011525332.1:c.2158-14119G>T	XP_011523634.1:n.2158-14119G>T
XM_011525333.1:c.2158-14119G>T	XP_011523635.1:n.2158-14119G>T
XM_011525334.1:c.2158-14119G>T	XP_011523636.1:n.2158-14119G>T
XM_011525335.1:c.2098-14119G>T	XP_011523637.1:n.2098-14119G>T
XM_011525336.1:c.2038-14119G>T	XP_011523638.1:n.2038-14119G>T
XM_011525337.1:c.1957-14119G>T	XP_011523639.1:n.1957-14119G>T
XM_011525338.1:c.1675-14119G>T	XP_011523640.1:n.1675-14119G>T
XM_011525339.1:c.2158-14119G>T	XP_011523641.1:n.2158-14119G>T
XM_011525340.1:c.2158-14119G>T	XP_011523642.1:n.2158-14119G>T
XM_011525332.3:c.2158-14119G>T	XP_011523634.1:n.2158-14119G>T
XM_011525333.3:c.2158-14119G>T	XP_011523635.1:n.2158-14119G>T
XM_011525334.2:c.2158-14119G>T	XP_011523636.1:n.2158-14119G>T
XM_011525335.3:c.2098-14119G>T	XP_011523637.1:n.2098-14119G>T
XM_011525336.2:c.2038-14119G>T	XP_011523638.1:n.2038-14119G>T
XM_011525337.2:c.1957-14119G>T	XP_011523639.1:n.1957-14119G>T
XM_011525338.2:c.1675-14119G>T	XP_011523640.1:n.1675-14119G>T
XM_011525339.3:c.2158-14119G>T	XP_011523641.1:n.2158-14119G>T
XM_011525340.3:c.2158-14119G>T	XP_011523642.1:n.2158-14119G>T
XM_017025200.1:c.1615-14119G>T	XP_016880689.1:n.1615-14119G>T
XM_017025201.1:c.1615-14119G>T	XP_016880690.1:n.1615-14119G>T
XM_017025202.1:c.244-14119G>T	XP_016880691.1:n.244-14119G>T
XM_017025203.1:c.244-14119G>T	XP_016880692.1:n.244-14119G>T
NM_032043.3:c.2098-14119G>T MANE Select	NP_114432.2:n.2098-14119G>T