Canonical Allele Identifier: CA400479471

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683880-A-G
• MyVariant Identifiers: chr17:g.59761241A>G (hg19) ; chr17:g.61683880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683880A>G , CM000679.2:g.61683880A>G	GRCh38
NC_000017.10:g.59761241A>G , CM000679.1:g.59761241A>G	GRCh37
NC_000017.9:g.57116023A>G	NCBI36
NG_007409.2:g.184680T>C , LRG_300:g.184680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1906T>C
ENST00000682453.1:c.3166T>C	ENSP00000506943.1:p.Ser1056Pro
ENST00000682477.1:c.*2592T>C	ENSP00000507075.1:n.*2592T>C
ENST00000682589.1:n.9043T>C
ENST00000682755.1:c.2944T>C	ENSP00000507660.1:p.Ser982Pro
ENST00000682989.1:c.*257T>C	ENSP00000507786.1:n.*257T>C
ENST00000683039.1:c.3166T>C	ENSP00000508303.1:p.Ser1056Pro
ENST00000683235.1:c.*581T>C	ENSP00000507646.1:n.*581T>C
ENST00000683535.1:n.1296T>C
ENST00000684584.1:c.2329T>C	ENSP00000508044.1:p.Ser777Pro
ENST00000684626.1:n.1412T>C
ENST00000684769.1:c.1356T>C	ENSP00000507691.1:n.1356T>C
ENST00000259008.7:c.3166T>C MANE Select	ENSP00000259008.2:p.Ser1056Pro
ENST00000259008.6:c.3166T>C	ENSP00000259008.2:p.Ser1056Pro
NM_032043.2:c.3166T>C , LRG_300t1:c.3166T>C	NP_114432.2:p.Ser1056Pro
XM_011525332.1:c.3226T>C	XP_011523634.1:p.Ser1076Pro
XM_011525333.1:c.3226T>C	XP_011523635.1:p.Ser1076Pro
XM_011525334.1:c.3226T>C	XP_011523636.1:p.Ser1076Pro
XM_011525335.1:c.3166T>C	XP_011523637.1:p.Ser1056Pro
XM_011525336.1:c.3106T>C	XP_011523638.1:p.Ser1036Pro
XM_011525337.1:c.3025T>C	XP_011523639.1:p.Ser1009Pro
XM_011525338.1:c.2743T>C	XP_011523640.1:p.Ser915Pro
XM_011525332.3:c.3226T>C	XP_011523634.1:p.Ser1076Pro
XM_011525333.3:c.3226T>C	XP_011523635.1:p.Ser1076Pro
XM_011525334.2:c.3226T>C	XP_011523636.1:p.Ser1076Pro
XM_011525335.3:c.3166T>C	XP_011523637.1:p.Ser1056Pro
XM_011525336.2:c.3106T>C	XP_011523638.1:p.Ser1036Pro
XM_011525337.2:c.3025T>C	XP_011523639.1:p.Ser1009Pro
XM_011525338.2:c.2743T>C	XP_011523640.1:p.Ser915Pro
XM_017025200.1:c.2683T>C	XP_016880689.1:p.Ser895Pro
XM_017025201.1:c.2683T>C	XP_016880690.1:p.Ser895Pro
XM_017025202.1:c.1312T>C	XP_016880691.1:p.Ser438Pro
XM_017025203.1:c.1312T>C	XP_016880692.1:p.Ser438Pro
NM_032043.3:c.3166T>C MANE Select	NP_114432.2:p.Ser1056Pro