Canonical Allele Identifier: CA501335477

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1103832
• ClinVar RCV Id: RCV001427653
• dbSNP Id: rs2061321607
• MyVariant Identifiers: chr17:g.59761344A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683983A>G , CM000679.2:g.61683983A>G	GRCh38
NC_000017.10:g.59761344A>G , CM000679.1:g.59761344A>G	GRCh37
NC_000017.9:g.57116126A>G	NCBI36
NG_007409.2:g.184577T>C , LRG_300:g.184577T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1803T>C
ENST00000682453.1:c.3063T>C	ENSP00000506943.1:p.Pro1021=
ENST00000682477.1:c.*2489T>C	ENSP00000507075.1:n.*2489T>C
ENST00000682589.1:n.8940T>C
ENST00000682755.1:c.2841T>C	ENSP00000507660.1:p.Pro947=
ENST00000682989.1:c.*154T>C	ENSP00000507786.1:n.*154T>C
ENST00000683039.1:c.3063T>C	ENSP00000508303.1:p.Pro1021=
ENST00000683235.1:c.*478T>C	ENSP00000507646.1:n.*478T>C
ENST00000683535.1:n.1193T>C
ENST00000684584.1:c.2226T>C	ENSP00000508044.1:p.Pro742=
ENST00000684626.1:n.1309T>C
ENST00000684769.1:c.1253T>C	ENSP00000507691.1:n.1253T>C
ENST00000259008.7:c.3063T>C MANE Select	ENSP00000259008.2:p.Pro1021=
ENST00000259008.6:c.3063T>C	ENSP00000259008.2:p.Pro1021=
NM_032043.2:c.3063T>C , LRG_300t1:c.3063T>C	NP_114432.2:p.Pro1021=
XM_011525332.1:c.3123T>C	XP_011523634.1:p.Pro1041=
XM_011525333.1:c.3123T>C	XP_011523635.1:p.Pro1041=
XM_011525334.1:c.3123T>C	XP_011523636.1:p.Pro1041=
XM_011525335.1:c.3063T>C	XP_011523637.1:p.Pro1021=
XM_011525336.1:c.3003T>C	XP_011523638.1:p.Pro1001=
XM_011525337.1:c.2922T>C	XP_011523639.1:p.Pro974=
XM_011525338.1:c.2640T>C	XP_011523640.1:p.Pro880=
XM_011525332.3:c.3123T>C	XP_011523634.1:p.Pro1041=
XM_011525333.3:c.3123T>C	XP_011523635.1:p.Pro1041=
XM_011525334.2:c.3123T>C	XP_011523636.1:p.Pro1041=
XM_011525335.3:c.3063T>C	XP_011523637.1:p.Pro1021=
XM_011525336.2:c.3003T>C	XP_011523638.1:p.Pro1001=
XM_011525337.2:c.2922T>C	XP_011523639.1:p.Pro974=
XM_011525338.2:c.2640T>C	XP_011523640.1:p.Pro880=
XM_017025200.1:c.2580T>C	XP_016880689.1:p.Pro860=
XM_017025201.1:c.2580T>C	XP_016880690.1:p.Pro860=
XM_017025202.1:c.1209T>C	XP_016880691.1:p.Pro403=
XM_017025203.1:c.1209T>C	XP_016880692.1:p.Pro403=
NM_032043.3:c.3063T>C MANE Select	NP_114432.2:p.Pro1021=