Canonical Allele Identifier: CA400481311

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59763249A>C (hg19) ; chr17:g.61685888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685888A>C , CM000679.2:g.61685888A>C	GRCh38
NC_000017.10:g.59763249A>C , CM000679.1:g.59763249A>C	GRCh37
NC_000017.9:g.57118031A>C	NCBI36
NG_007409.2:g.182672T>G , LRG_300:g.182672T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2983T>G	ENSP00000507191.1:n.2983T>G
ENST00000682073.1:n.1593T>G
ENST00000682433.1:n.1932T>G
ENST00000682453.1:c.2853T>G	ENSP00000506943.1:p.Ile951Met
ENST00000682477.1:c.*2279T>G	ENSP00000507075.1:n.*2279T>G
ENST00000682589.1:n.8730T>G
ENST00000682755.1:c.2631T>G	ENSP00000507660.1:p.Ile877Met
ENST00000682989.1:c.2610-1748T>G	ENSP00000507786.1:n.2610-1748T>G
ENST00000683039.1:c.2853T>G	ENSP00000508303.1:p.Ile951Met
ENST00000683235.1:c.*268T>G	ENSP00000507646.1:n.*268T>G
ENST00000683535.1:n.983T>G
ENST00000684471.1:n.1266T>G
ENST00000684584.1:c.2069-1748T>G	ENSP00000508044.1:n.2069-1748T>G
ENST00000684626.1:n.1099T>G
ENST00000684769.1:c.1043T>G	ENSP00000507691.1:n.1043T>G
ENST00000259008.7:c.2853T>G MANE Select	ENSP00000259008.2:p.Ile951Met
ENST00000259008.6:c.2853T>G	ENSP00000259008.2:p.Ile951Met
ENST00000577598.5:c.2853T>G	ENSP00000464654.1:p.Ile951Met
NM_032043.2:c.2853T>G , LRG_300t1:c.2853T>G	NP_114432.2:p.Ile951Met
XM_011525332.1:c.2913T>G	XP_011523634.1:p.Ile971Met
XM_011525333.1:c.2913T>G	XP_011523635.1:p.Ile971Met
XM_011525334.1:c.2913T>G	XP_011523636.1:p.Ile971Met
XM_011525335.1:c.2853T>G	XP_011523637.1:p.Ile951Met
XM_011525336.1:c.2793T>G	XP_011523638.1:p.Ile931Met
XM_011525337.1:c.2712T>G	XP_011523639.1:p.Ile904Met
XM_011525338.1:c.2430T>G	XP_011523640.1:p.Ile810Met
XM_011525332.3:c.2913T>G	XP_011523634.1:p.Ile971Met
XM_011525333.3:c.2913T>G	XP_011523635.1:p.Ile971Met
XM_011525334.2:c.2913T>G	XP_011523636.1:p.Ile971Met
XM_011525335.3:c.2853T>G	XP_011523637.1:p.Ile951Met
XM_011525336.2:c.2793T>G	XP_011523638.1:p.Ile931Met
XM_011525337.2:c.2712T>G	XP_011523639.1:p.Ile904Met
XM_011525338.2:c.2430T>G	XP_011523640.1:p.Ile810Met
XM_017025200.1:c.2370T>G	XP_016880689.1:p.Ile790Met
XM_017025201.1:c.2370T>G	XP_016880690.1:p.Ile790Met
XM_017025202.1:c.999T>G	XP_016880691.1:p.Ile333Met
XM_017025203.1:c.999T>G	XP_016880692.1:p.Ile333Met
NM_032043.3:c.2853T>G MANE Select	NP_114432.2:p.Ile951Met