Canonical Allele Identifier: CA501335022

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2190494
• ClinVar RCV Id: RCV002616418
• gnomAD v4: 17-61683605-A-G
• MyVariant Identifiers: chr17:g.59760966A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683605A>G , CM000679.2:g.61683605A>G	GRCh38
NC_000017.10:g.59760966A>G , CM000679.1:g.59760966A>G	GRCh37
NC_000017.9:g.57115748A>G	NCBI36
NG_007409.2:g.184955T>C , LRG_300:g.184955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2181T>C
ENST00000682453.1:c.3441T>C	ENSP00000506943.1:p.Asn1147=
ENST00000682477.1:c.*2867T>C	ENSP00000507075.1:n.*2867T>C
ENST00000682589.1:n.9318T>C
ENST00000682755.1:c.3219T>C	ENSP00000507660.1:p.Asn1073=
ENST00000682989.1:c.*532T>C	ENSP00000507786.1:n.*532T>C
ENST00000683039.1:c.3441T>C	ENSP00000508303.1:p.Asn1147=
ENST00000683235.1:c.*856T>C	ENSP00000507646.1:n.*856T>C
ENST00000683535.1:n.1571T>C
ENST00000684584.1:c.2604T>C	ENSP00000508044.1:p.Asn868=
ENST00000684626.1:n.1687T>C
ENST00000684769.1:c.1631T>C	ENSP00000507691.1:n.1631T>C
ENST00000259008.7:c.3441T>C MANE Select	ENSP00000259008.2:p.Asn1147=
ENST00000259008.6:c.3441T>C	ENSP00000259008.2:p.Asn1147=
NM_032043.2:c.3441T>C , LRG_300t1:c.3441T>C	NP_114432.2:p.Asn1147=
XM_011525332.1:c.3501T>C	XP_011523634.1:p.Asn1167=
XM_011525333.1:c.3501T>C	XP_011523635.1:p.Asn1167=
XM_011525334.1:c.3501T>C	XP_011523636.1:p.Asn1167=
XM_011525335.1:c.3441T>C	XP_011523637.1:p.Asn1147=
XM_011525336.1:c.3381T>C	XP_011523638.1:p.Asn1127=
XM_011525337.1:c.3300T>C	XP_011523639.1:p.Asn1100=
XM_011525338.1:c.3018T>C	XP_011523640.1:p.Asn1006=
XM_011525332.3:c.3501T>C	XP_011523634.1:p.Asn1167=
XM_011525333.3:c.3501T>C	XP_011523635.1:p.Asn1167=
XM_011525334.2:c.3501T>C	XP_011523636.1:p.Asn1167=
XM_011525335.3:c.3441T>C	XP_011523637.1:p.Asn1147=
XM_011525336.2:c.3381T>C	XP_011523638.1:p.Asn1127=
XM_011525337.2:c.3300T>C	XP_011523639.1:p.Asn1100=
XM_011525338.2:c.3018T>C	XP_011523640.1:p.Asn1006=
XM_017025200.1:c.2958T>C	XP_016880689.1:p.Asn986=
XM_017025201.1:c.2958T>C	XP_016880690.1:p.Asn986=
XM_017025202.1:c.1587T>C	XP_016880691.1:p.Asn529=
XM_017025203.1:c.1587T>C	XP_016880692.1:p.Asn529=
NM_032043.3:c.3441T>C MANE Select	NP_114432.2:p.Asn1147=