Canonical Allele Identifier: CA400478393

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760876T>G (hg19) ; chr17:g.61683515T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683515T>G , CM000679.2:g.61683515T>G	GRCh38
NC_000017.10:g.59760876T>G , CM000679.1:g.59760876T>G	GRCh37
NC_000017.9:g.57115658T>G	NCBI36
NG_007409.2:g.185045A>C , LRG_300:g.185045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2271A>C
ENST00000682453.1:c.3531A>C	ENSP00000506943.1:p.Lys1177Asn
ENST00000682477.1:c.*2957A>C	ENSP00000507075.1:n.*2957A>C
ENST00000682589.1:n.9408A>C
ENST00000682755.1:c.3309A>C	ENSP00000507660.1:p.Lys1103Asn
ENST00000682989.1:c.*622A>C	ENSP00000507786.1:n.*622A>C
ENST00000683039.1:c.3531A>C	ENSP00000508303.1:p.Lys1177Asn
ENST00000683235.1:c.*946A>C	ENSP00000507646.1:n.*946A>C
ENST00000683535.1:n.1661A>C
ENST00000684584.1:c.2694A>C	ENSP00000508044.1:p.Lys898Asn
ENST00000684626.1:n.1777A>C
ENST00000684769.1:c.1721A>C	ENSP00000507691.1:n.1721A>C
ENST00000259008.7:c.3531A>C MANE Select	ENSP00000259008.2:p.Lys1177Asn
ENST00000259008.6:c.3531A>C	ENSP00000259008.2:p.Lys1177Asn
NM_032043.2:c.3531A>C , LRG_300t1:c.3531A>C	NP_114432.2:p.Lys1177Asn
XM_011525332.1:c.3591A>C	XP_011523634.1:p.Lys1197Asn
XM_011525333.1:c.3591A>C	XP_011523635.1:p.Lys1197Asn
XM_011525334.1:c.3591A>C	XP_011523636.1:p.Lys1197Asn
XM_011525335.1:c.3531A>C	XP_011523637.1:p.Lys1177Asn
XM_011525336.1:c.3471A>C	XP_011523638.1:p.Lys1157Asn
XM_011525337.1:c.3390A>C	XP_011523639.1:p.Lys1130Asn
XM_011525338.1:c.3108A>C	XP_011523640.1:p.Lys1036Asn
XM_011525332.3:c.3591A>C	XP_011523634.1:p.Lys1197Asn
XM_011525333.3:c.3591A>C	XP_011523635.1:p.Lys1197Asn
XM_011525334.2:c.3591A>C	XP_011523636.1:p.Lys1197Asn
XM_011525335.3:c.3531A>C	XP_011523637.1:p.Lys1177Asn
XM_011525336.2:c.3471A>C	XP_011523638.1:p.Lys1157Asn
XM_011525337.2:c.3390A>C	XP_011523639.1:p.Lys1130Asn
XM_011525338.2:c.3108A>C	XP_011523640.1:p.Lys1036Asn
XM_017025200.1:c.3048A>C	XP_016880689.1:p.Lys1016Asn
XM_017025201.1:c.3048A>C	XP_016880690.1:p.Lys1016Asn
XM_017025202.1:c.1677A>C	XP_016880691.1:p.Lys559Asn
XM_017025203.1:c.1677A>C	XP_016880692.1:p.Lys559Asn
NM_032043.3:c.3531A>C MANE Select	NP_114432.2:p.Lys1177Asn