Canonical Allele Identifier: CA501335019

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683599-T-G
• MyVariant Identifiers: chr17:g.59760960T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683599T>G , CM000679.2:g.61683599T>G	GRCh38
NC_000017.10:g.59760960T>G , CM000679.1:g.59760960T>G	GRCh37
NC_000017.9:g.57115742T>G	NCBI36
NG_007409.2:g.184961A>C , LRG_300:g.184961A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2187A>C
ENST00000682453.1:c.3447A>C	ENSP00000506943.1:p.Leu1149=
ENST00000682477.1:c.*2873A>C	ENSP00000507075.1:n.*2873A>C
ENST00000682589.1:n.9324A>C
ENST00000682755.1:c.3225A>C	ENSP00000507660.1:p.Leu1075=
ENST00000682989.1:c.*538A>C	ENSP00000507786.1:n.*538A>C
ENST00000683039.1:c.3447A>C	ENSP00000508303.1:p.Leu1149=
ENST00000683235.1:c.*862A>C	ENSP00000507646.1:n.*862A>C
ENST00000683535.1:n.1577A>C
ENST00000684584.1:c.2610A>C	ENSP00000508044.1:p.Leu870=
ENST00000684626.1:n.1693A>C
ENST00000684769.1:c.1637A>C	ENSP00000507691.1:n.1637A>C
ENST00000259008.7:c.3447A>C MANE Select	ENSP00000259008.2:p.Leu1149=
ENST00000259008.6:c.3447A>C	ENSP00000259008.2:p.Leu1149=
NM_032043.2:c.3447A>C , LRG_300t1:c.3447A>C	NP_114432.2:p.Leu1149=
XM_011525332.1:c.3507A>C	XP_011523634.1:p.Leu1169=
XM_011525333.1:c.3507A>C	XP_011523635.1:p.Leu1169=
XM_011525334.1:c.3507A>C	XP_011523636.1:p.Leu1169=
XM_011525335.1:c.3447A>C	XP_011523637.1:p.Leu1149=
XM_011525336.1:c.3387A>C	XP_011523638.1:p.Leu1129=
XM_011525337.1:c.3306A>C	XP_011523639.1:p.Leu1102=
XM_011525338.1:c.3024A>C	XP_011523640.1:p.Leu1008=
XM_011525332.3:c.3507A>C	XP_011523634.1:p.Leu1169=
XM_011525333.3:c.3507A>C	XP_011523635.1:p.Leu1169=
XM_011525334.2:c.3507A>C	XP_011523636.1:p.Leu1169=
XM_011525335.3:c.3447A>C	XP_011523637.1:p.Leu1149=
XM_011525336.2:c.3387A>C	XP_011523638.1:p.Leu1129=
XM_011525337.2:c.3306A>C	XP_011523639.1:p.Leu1102=
XM_011525338.2:c.3024A>C	XP_011523640.1:p.Leu1008=
XM_017025200.1:c.2964A>C	XP_016880689.1:p.Leu988=
XM_017025201.1:c.2964A>C	XP_016880690.1:p.Leu988=
XM_017025202.1:c.1593A>C	XP_016880691.1:p.Leu531=
XM_017025203.1:c.1593A>C	XP_016880692.1:p.Leu531=
NM_032043.3:c.3447A>C MANE Select	NP_114432.2:p.Leu1149=