Canonical Allele Identifier: CA10591858

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1500242
• ClinVar RCV Id: RCV002013377 ; RCV003585186
• dbSNP Id: rs2052400387
• MyVariant Identifiers: chr17:g.41223100C>A (hg19) ; chr17:g.43071083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071083C>A , CM000679.2:g.43071083C>A	GRCh38
NC_000017.10:g.41223100C>A , CM000679.1:g.41223100C>A	GRCh37
NC_000017.9:g.38476626C>A	NCBI36
NG_005905.2:g.146901G>T , LRG_292:g.146901G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4828G>T	ENSP00000417241.2:p.Ala1610Ser
ENST00000470026.6:c.4831G>T	ENSP00000419274.2:p.Ala1611Ser
ENST00000473961.6:c.4705G>T	ENSP00000420201.2:p.Ala1569Ser
ENST00000476777.6:c.4825G>T	ENSP00000417554.2:p.Ala1609Ser
ENST00000477152.6:c.4753G>T	ENSP00000419988.2:p.Ala1585Ser
ENST00000478531.6:c.1519G>T	ENSP00000420412.2:p.Ala507Ser
ENST00000489037.2:c.4753G>T	ENSP00000420781.2:p.Ala1585Ser
ENST00000493919.6:c.1381G>T	ENSP00000418819.2:p.Ala461Ser
ENST00000494123.6:c.4831G>T	ENSP00000419103.2:p.Ala1611Ser
ENST00000497488.2:c.3943G>T	ENSP00000418986.2:p.Ala1315Ser
ENST00000618469.2:c.4831G>T	ENSP00000478114.2:p.Ala1611Ser
ENST00000634433.2:c.4708G>T	ENSP00000489431.2:p.Ala1570Ser
ENST00000644379.2:c.4897G>T	ENSP00000496570.2:p.Ala1633Ser
ENST00000644555.2:c.1381G>T	ENSP00000494614.2:p.Ala461Ser
ENST00000652672.2:c.4690G>T	ENSP00000498906.2:p.Ala1564Ser
ENST00000484087.6:c.1393G>T	ENSP00000419481.2:p.Ala465Ser
ENST00000700182.1:c.1438G>T	ENSP00000514849.1:p.Ala480Ser
ENST00000357654.9:c.4831G>T MANE Select	ENSP00000350283.3:p.Ala1611Ser
ENST00000471181.7:c.4894G>T	ENSP00000418960.2:p.Ala1632Ser
ENST00000644379.1:c.1218G>T
ENST00000352993.7:c.1405G>T	ENSP00000312236.5:p.Ala469Ser
ENST00000357654.7:c.4831G>T	ENSP00000350283.3:p.Ala1611Ser
ENST00000461221.5:c.*4614G>T	ENSP00000418548.1:n.*4614G>T
ENST00000468300.5:c.1519G>T	ENSP00000417148.1:p.Ala507Ser
ENST00000471181.6:c.4894G>T	ENSP00000418960.2:p.Ala1632Ser
ENST00000478531.5:c.1519G>T	ENSP00000420412.1:p.Ala507Ser
ENST00000484087.5:c.1144G>T	ENSP00000419481.1:p.Ala382Ser
ENST00000491747.6:c.1519G>T	ENSP00000420705.2:p.Ala507Ser
ENST00000493795.5:c.4690G>T	ENSP00000418775.1:p.Ala1564Ser
ENST00000493919.5:c.1381G>T	ENSP00000418819.1:p.Ala461Ser
ENST00000586385.5:c.5-7132G>T	ENSP00000465818.1:n.5-7132G>T
ENST00000591534.5:c.304G>T	ENSP00000467329.1:p.Ala102Ser
ENST00000591849.5:c.-98-20893G>T	ENSP00000465347.1:n.-98-20893G>T
NM_007294.3:c.4831G>T , LRG_292t1:c.4831G>T	NP_009225.1:p.Ala1611Ser
NM_007297.3:c.4690G>T	NP_009228.2:p.Ala1564Ser
NM_007298.3:c.1519G>T	NP_009229.2:p.Ala507Ser
NM_007299.3:c.1519G>T	NP_009230.2:p.Ala507Ser
NM_007300.3:c.4894G>T	NP_009231.2:p.Ala1632Ser
NR_027676.1:n.4967G>T
NM_007294.4:c.4831G>T MANE Select	NP_009225.1:p.Ala1611Ser
NM_007297.4:c.4690G>T	NP_009228.2:p.Ala1564Ser
NM_007299.4:c.1519G>T	NP_009230.2:p.Ala507Ser
NM_007300.4:c.4894G>T	NP_009231.2:p.Ala1632Ser
NR_027676.2:n.5008G>T