Canonical Allele Identifier: CA157704
Gene: BRIP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 133756
dbSNP Id: rs4986764

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61685986A>G , CM000679.2:g.61685986A>G GRCh38
NC_000017.10:g.59763347A>G , CM000679.1:g.59763347A>G GRCh37
NC_000017.9:g.57118129A>G NCBI36
NG_007409.2:g.182574T>C , LRG_300:g.182574T>C

Transcript Alleles

HGVS Amino-acid change
NM_032043.2:c.2755T>C , LRG_300t1:c.2755T>C NP_114432.2:p.Ser919Pro
XM_011525332.1:c.2815T>C XP_011523634.1:p.Ser939Pro
XM_011525333.1:c.2815T>C XP_011523635.1:p.Ser939Pro
XM_011525334.1:c.2815T>C XP_011523636.1:p.Ser939Pro
XM_011525335.1:c.2755T>C XP_011523637.1:p.Ser919Pro
XM_011525336.1:c.2695T>C XP_011523638.1:p.Ser899Pro
XM_011525337.1:c.2614T>C XP_011523639.1:p.Ser872Pro
XM_011525338.1:c.2332T>C XP_011523640.1:p.Ser778Pro
XM_011525332.3:c.2815T>C
XM_011525333.3:c.2815T>C
XM_011525334.2:c.2815T>C
XM_011525335.3:c.2755T>C
XM_011525336.2:c.2695T>C
XM_011525337.2:c.2614T>C
XM_011525338.2:c.2332T>C
XM_017025200.1:c.2272T>C XP_016880689.1:p.Ser758Pro
XM_017025201.1:c.2272T>C XP_016880690.1:p.Ser758Pro
XM_017025202.1:c.901T>C XP_016880691.1:p.Ser301Pro
XM_017025203.1:c.901T>C XP_016880692.1:p.Ser301Pro
ENST00000259008.6:c.2755T>C ENSP00000259008.2:p.Ser919Pro
ENST00000577598.5:n.2755T>C ENSP00000464654.1:p.Ser919Pro