Canonical Allele Identifier: CA400481310

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59763248T>G (hg19) ; chr17:g.61685887T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685887T>G , CM000679.2:g.61685887T>G	GRCh38
NC_000017.10:g.59763248T>G , CM000679.1:g.59763248T>G	GRCh37
NC_000017.9:g.57118030T>G	NCBI36
NG_007409.2:g.182673A>C , LRG_300:g.182673A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2984A>C	ENSP00000507191.1:n.2984A>C
ENST00000682073.1:n.1594A>C
ENST00000682433.1:n.1933A>C
ENST00000682453.1:c.2854A>C	ENSP00000506943.1:p.Ile952Leu
ENST00000682477.1:c.*2280A>C	ENSP00000507075.1:n.*2280A>C
ENST00000682589.1:n.8731A>C
ENST00000682755.1:c.2632A>C	ENSP00000507660.1:p.Ile878Leu
ENST00000682989.1:c.2610-1747A>C	ENSP00000507786.1:n.2610-1747A>C
ENST00000683039.1:c.2854A>C	ENSP00000508303.1:p.Ile952Leu
ENST00000683235.1:c.*269A>C	ENSP00000507646.1:n.*269A>C
ENST00000683535.1:n.984A>C
ENST00000684471.1:n.1267A>C
ENST00000684584.1:c.2069-1747A>C	ENSP00000508044.1:n.2069-1747A>C
ENST00000684626.1:n.1100A>C
ENST00000684769.1:c.1044A>C	ENSP00000507691.1:n.1044A>C
ENST00000259008.7:c.2854A>C MANE Select	ENSP00000259008.2:p.Ile952Leu
ENST00000259008.6:c.2854A>C	ENSP00000259008.2:p.Ile952Leu
ENST00000577598.5:c.2854A>C	ENSP00000464654.1:p.Ile952Leu
NM_032043.2:c.2854A>C , LRG_300t1:c.2854A>C	NP_114432.2:p.Ile952Leu
XM_011525332.1:c.2914A>C	XP_011523634.1:p.Ile972Leu
XM_011525333.1:c.2914A>C	XP_011523635.1:p.Ile972Leu
XM_011525334.1:c.2914A>C	XP_011523636.1:p.Ile972Leu
XM_011525335.1:c.2854A>C	XP_011523637.1:p.Ile952Leu
XM_011525336.1:c.2794A>C	XP_011523638.1:p.Ile932Leu
XM_011525337.1:c.2713A>C	XP_011523639.1:p.Ile905Leu
XM_011525338.1:c.2431A>C	XP_011523640.1:p.Ile811Leu
XM_011525332.3:c.2914A>C	XP_011523634.1:p.Ile972Leu
XM_011525333.3:c.2914A>C	XP_011523635.1:p.Ile972Leu
XM_011525334.2:c.2914A>C	XP_011523636.1:p.Ile972Leu
XM_011525335.3:c.2854A>C	XP_011523637.1:p.Ile952Leu
XM_011525336.2:c.2794A>C	XP_011523638.1:p.Ile932Leu
XM_011525337.2:c.2713A>C	XP_011523639.1:p.Ile905Leu
XM_011525338.2:c.2431A>C	XP_011523640.1:p.Ile811Leu
XM_017025200.1:c.2371A>C	XP_016880689.1:p.Ile791Leu
XM_017025201.1:c.2371A>C	XP_016880690.1:p.Ile791Leu
XM_017025202.1:c.1000A>C	XP_016880691.1:p.Ile334Leu
XM_017025203.1:c.1000A>C	XP_016880692.1:p.Ile334Leu
NM_032043.3:c.2854A>C MANE Select	NP_114432.2:p.Ile952Leu