Canonical Allele Identifier: CA400478603

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760926T>G (hg19) ; chr17:g.61683565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683565T>G , CM000679.2:g.61683565T>G	GRCh38
NC_000017.10:g.59760926T>G , CM000679.1:g.59760926T>G	GRCh37
NC_000017.9:g.57115708T>G	NCBI36
NG_007409.2:g.184995A>C , LRG_300:g.184995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2221A>C
ENST00000682453.1:c.3481A>C	ENSP00000506943.1:p.Asn1161His
ENST00000682477.1:c.*2907A>C	ENSP00000507075.1:n.*2907A>C
ENST00000682589.1:n.9358A>C
ENST00000682755.1:c.3259A>C	ENSP00000507660.1:p.Asn1087His
ENST00000682989.1:c.*572A>C	ENSP00000507786.1:n.*572A>C
ENST00000683039.1:c.3481A>C	ENSP00000508303.1:p.Asn1161His
ENST00000683235.1:c.*896A>C	ENSP00000507646.1:n.*896A>C
ENST00000683535.1:n.1611A>C
ENST00000684584.1:c.2644A>C	ENSP00000508044.1:p.Asn882His
ENST00000684626.1:n.1727A>C
ENST00000684769.1:c.1671A>C	ENSP00000507691.1:n.1671A>C
ENST00000259008.7:c.3481A>C MANE Select	ENSP00000259008.2:p.Asn1161His
ENST00000259008.6:c.3481A>C	ENSP00000259008.2:p.Asn1161His
NM_032043.2:c.3481A>C , LRG_300t1:c.3481A>C	NP_114432.2:p.Asn1161His
XM_011525332.1:c.3541A>C	XP_011523634.1:p.Asn1181His
XM_011525333.1:c.3541A>C	XP_011523635.1:p.Asn1181His
XM_011525334.1:c.3541A>C	XP_011523636.1:p.Asn1181His
XM_011525335.1:c.3481A>C	XP_011523637.1:p.Asn1161His
XM_011525336.1:c.3421A>C	XP_011523638.1:p.Asn1141His
XM_011525337.1:c.3340A>C	XP_011523639.1:p.Asn1114His
XM_011525338.1:c.3058A>C	XP_011523640.1:p.Asn1020His
XM_011525332.3:c.3541A>C	XP_011523634.1:p.Asn1181His
XM_011525333.3:c.3541A>C	XP_011523635.1:p.Asn1181His
XM_011525334.2:c.3541A>C	XP_011523636.1:p.Asn1181His
XM_011525335.3:c.3481A>C	XP_011523637.1:p.Asn1161His
XM_011525336.2:c.3421A>C	XP_011523638.1:p.Asn1141His
XM_011525337.2:c.3340A>C	XP_011523639.1:p.Asn1114His
XM_011525338.2:c.3058A>C	XP_011523640.1:p.Asn1020His
XM_017025200.1:c.2998A>C	XP_016880689.1:p.Asn1000His
XM_017025201.1:c.2998A>C	XP_016880690.1:p.Asn1000His
XM_017025202.1:c.1627A>C	XP_016880691.1:p.Asn543His
XM_017025203.1:c.1627A>C	XP_016880692.1:p.Asn543His
NM_032043.3:c.3481A>C MANE Select	NP_114432.2:p.Asn1161His