Canonical Allele Identifier: CA10590355

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867587
• ClinVar RCV Id: RCV001076306
• dbSNP Id: rs587782432
• MyVariant Identifiers: chr17:g.41197806C>A (hg19) ; chr17:g.43045789C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045789C>A , CM000679.2:g.43045789C>A	GRCh38
NC_000017.10:g.41197806C>A , CM000679.1:g.41197806C>A	GRCh37
NC_000017.9:g.38451332C>A	NCBI36
NG_005905.2:g.172195G>T , LRG_292:g.172195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5478G>T	ENSP00000417241.2:p.Met1826Ile
ENST00000470026.6:c.5481G>T	ENSP00000419274.2:p.Met1827Ile
ENST00000473961.6:c.5355G>T	ENSP00000420201.2:p.Met1785Ile
ENST00000476777.6:c.5475G>T	ENSP00000417554.2:p.Met1825Ile
ENST00000477152.6:c.5403G>T	ENSP00000419988.2:p.Met1801Ile
ENST00000478531.6:c.2169G>T	ENSP00000420412.2:p.Met723Ile
ENST00000489037.2:c.5403G>T	ENSP00000420781.2:p.Met1801Ile
ENST00000493919.6:c.2031G>T	ENSP00000418819.2:p.Met677Ile
ENST00000494123.6:c.5481G>T	ENSP00000419103.2:p.Met1827Ile
ENST00000497488.2:c.4593G>T	ENSP00000418986.2:p.Met1531Ile
ENST00000618469.2:c.5481G>T	ENSP00000478114.2:p.Met1827Ile
ENST00000634433.2:c.5358G>T	ENSP00000489431.2:p.Met1786Ile
ENST00000644379.2:c.5547G>T	ENSP00000496570.2:p.Met1849Ile
ENST00000644555.2:c.2031G>T	ENSP00000494614.2:p.Met677Ile
ENST00000652672.2:c.5340G>T	ENSP00000498906.2:p.Met1780Ile
ENST00000484087.6:c.2043G>T	ENSP00000419481.2:p.Met681Ile
ENST00000700081.1:n.1364G>T
ENST00000700082.1:n.845G>T
ENST00000357654.9:c.5481G>T MANE Select	ENSP00000350283.3:p.Met1827Ile
ENST00000471181.7:c.5544G>T	ENSP00000418960.2:p.Met1848Ile
ENST00000644379.1:c.1868G>T
ENST00000352993.7:c.2055G>T	ENSP00000312236.5:p.Met685Ile
ENST00000357654.7:c.5481G>T	ENSP00000350283.3:p.Met1827Ile
ENST00000461221.5:c.*5264G>T	ENSP00000418548.1:n.*5264G>T
ENST00000468300.5:c.2095G>T	ENSP00000417148.1:p.Val699Leu
ENST00000471181.6:c.5544G>T	ENSP00000418960.2:p.Met1848Ile
ENST00000491747.6:c.2169G>T	ENSP00000420705.2:p.Met723Ile
ENST00000493795.5:c.5340G>T	ENSP00000418775.1:p.Met1780Ile
ENST00000586385.5:c.411G>T	ENSP00000465818.1:p.Met137Ile
ENST00000591534.5:c.954G>T	ENSP00000467329.1:p.Met318Ile
ENST00000591849.5:c.180G>T	ENSP00000465347.1:p.Met60Ile
NM_007294.3:c.5481G>T , LRG_292t1:c.5481G>T	NP_009225.1:p.Met1827Ile
NM_007297.3:c.5340G>T	NP_009228.2:p.Met1780Ile
NM_007298.3:c.2169G>T	NP_009229.2:p.Met723Ile
NM_007299.3:c.2095G>T	NP_009230.2:p.Val699Leu
NM_007300.3:c.5544G>T	NP_009231.2:p.Met1848Ile
NR_027676.1:n.5617G>T
NM_007294.4:c.5481G>T MANE Select	NP_009225.1:p.Met1827Ile
NM_007297.4:c.5340G>T	NP_009228.2:p.Met1780Ile
NM_007299.4:c.2095G>T	NP_009230.2:p.Val699Leu
NM_007300.4:c.5544G>T	NP_009231.2:p.Met1848Ile
NR_027676.2:n.5658G>T