Canonical Allele Identifier: CA003041

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185295
• ClinVar RCV Id: RCV000164690 ; RCV000241386 ; RCV000496345
• dbSNP Id: rs786202064
• MyVariant Identifiers: chr17:g.41223097G>A (hg19) ; chr17:g.43071080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071080G>A , CM000679.2:g.43071080G>A	GRCh38
NC_000017.10:g.41223097G>A , CM000679.1:g.41223097G>A	GRCh37
NC_000017.9:g.38476623G>A	NCBI36
NG_005905.2:g.146904C>T , LRG_292:g.146904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4831C>T	ENSP00000417241.2:p.Gln1611Ter
ENST00000470026.6:c.4834C>T	ENSP00000419274.2:p.Gln1612Ter
ENST00000473961.6:c.4708C>T	ENSP00000420201.2:p.Gln1570Ter
ENST00000476777.6:c.4828C>T	ENSP00000417554.2:p.Gln1610Ter
ENST00000477152.6:c.4756C>T	ENSP00000419988.2:p.Gln1586Ter
ENST00000478531.6:c.1522C>T	ENSP00000420412.2:p.Gln508Ter
ENST00000489037.2:c.4756C>T	ENSP00000420781.2:p.Gln1586Ter
ENST00000493919.6:c.1384C>T	ENSP00000418819.2:p.Gln462Ter
ENST00000494123.6:c.4834C>T	ENSP00000419103.2:p.Gln1612Ter
ENST00000497488.2:c.3946C>T	ENSP00000418986.2:p.Gln1316Ter
ENST00000618469.2:c.4834C>T	ENSP00000478114.2:p.Gln1612Ter
ENST00000634433.2:c.4711C>T	ENSP00000489431.2:p.Gln1571Ter
ENST00000644379.2:c.4900C>T	ENSP00000496570.2:p.Gln1634Ter
ENST00000644555.2:c.1384C>T	ENSP00000494614.2:p.Gln462Ter
ENST00000652672.2:c.4693C>T	ENSP00000498906.2:p.Gln1565Ter
ENST00000484087.6:c.1396C>T	ENSP00000419481.2:p.Gln466Ter
ENST00000700182.1:c.1441C>T	ENSP00000514849.1:p.Gln481Ter
ENST00000357654.9:c.4834C>T MANE Select	ENSP00000350283.3:p.Gln1612Ter
ENST00000471181.7:c.4897C>T	ENSP00000418960.2:p.Gln1633Ter
ENST00000644379.1:c.1221C>T
ENST00000352993.7:c.1408C>T	ENSP00000312236.5:p.Gln470Ter
ENST00000357654.7:c.4834C>T	ENSP00000350283.3:p.Gln1612Ter
ENST00000461221.5:c.*4617C>T	ENSP00000418548.1:n.*4617C>T
ENST00000468300.5:c.1522C>T	ENSP00000417148.1:p.Gln508Ter
ENST00000471181.6:c.4897C>T	ENSP00000418960.2:p.Gln1633Ter
ENST00000478531.5:c.1522C>T	ENSP00000420412.1:p.Gln508Ter
ENST00000484087.5:c.1147C>T	ENSP00000419481.1:p.Gln383Ter
ENST00000491747.6:c.1522C>T	ENSP00000420705.2:p.Gln508Ter
ENST00000493795.5:c.4693C>T	ENSP00000418775.1:p.Gln1565Ter
ENST00000493919.5:c.1384C>T	ENSP00000418819.1:p.Gln462Ter
ENST00000586385.5:c.5-7129C>T	ENSP00000465818.1:n.5-7129C>T
ENST00000591534.5:c.307C>T	ENSP00000467329.1:p.Gln103Ter
ENST00000591849.5:c.-98-20890C>T	ENSP00000465347.1:n.-98-20890C>T
NM_007294.3:c.4834C>T , LRG_292t1:c.4834C>T	NP_009225.1:p.Gln1612Ter
NM_007297.3:c.4693C>T	NP_009228.2:p.Gln1565Ter
NM_007298.3:c.1522C>T	NP_009229.2:p.Gln508Ter
NM_007299.3:c.1522C>T	NP_009230.2:p.Gln508Ter
NM_007300.3:c.4897C>T	NP_009231.2:p.Gln1633Ter
NR_027676.1:n.4970C>T
NM_007294.4:c.4834C>T MANE Select	NP_009225.1:p.Gln1612Ter
NM_007297.4:c.4693C>T	NP_009228.2:p.Gln1565Ter
NM_007299.4:c.1522C>T	NP_009230.2:p.Gln508Ter
NM_007300.4:c.4897C>T	NP_009231.2:p.Gln1633Ter
NR_027676.2:n.5011C>T