Canonical Allele Identifier: CA10591860

Gene: BRCA1

Linked Data

• dbSNP Id: rs2052400387
• gnomAD v3: 17-43071083-C-T
• gnomAD v4: 17-43071083-C-T
• MyVariant Identifiers: chr17:g.41223100C>T (hg19) ; chr17:g.43071083C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4828G>A	ENSP00000417241.2:p.Ala1610Thr
ENST00000470026.6:c.4831G>A	ENSP00000419274.2:p.Ala1611Thr
ENST00000473961.6:c.4705G>A	ENSP00000420201.2:p.Ala1569Thr
ENST00000476777.6:c.4825G>A	ENSP00000417554.2:p.Ala1609Thr
ENST00000477152.6:c.4753G>A	ENSP00000419988.2:p.Ala1585Thr
ENST00000478531.6:c.1519G>A	ENSP00000420412.2:p.Ala507Thr
ENST00000489037.2:c.4753G>A	ENSP00000420781.2:p.Ala1585Thr
ENST00000493919.6:c.1381G>A	ENSP00000418819.2:p.Ala461Thr
ENST00000494123.6:c.4831G>A	ENSP00000419103.2:p.Ala1611Thr
ENST00000497488.2:c.3943G>A	ENSP00000418986.2:p.Ala1315Thr
ENST00000618469.2:c.4831G>A	ENSP00000478114.2:p.Ala1611Thr
ENST00000634433.2:c.4708G>A	ENSP00000489431.2:p.Ala1570Thr
ENST00000644379.2:c.4897G>A	ENSP00000496570.2:p.Ala1633Thr
ENST00000644555.2:c.1381G>A	ENSP00000494614.2:p.Ala461Thr
ENST00000652672.2:c.4690G>A	ENSP00000498906.2:p.Ala1564Thr
ENST00000484087.6:c.1393G>A	ENSP00000419481.2:p.Ala465Thr
ENST00000700182.1:c.1438G>A	ENSP00000514849.1:p.Ala480Thr
ENST00000357654.9:c.4831G>A MANE Select	ENSP00000350283.3:p.Ala1611Thr
ENST00000471181.7:c.4894G>A	ENSP00000418960.2:p.Ala1632Thr
ENST00000644379.1:c.1218G>A
ENST00000352993.7:c.1405G>A	ENSP00000312236.5:p.Ala469Thr
ENST00000357654.7:c.4831G>A	ENSP00000350283.3:p.Ala1611Thr
ENST00000461221.5:c.*4614G>A	ENSP00000418548.1:n.*4614G>A
ENST00000468300.5:c.1519G>A	ENSP00000417148.1:p.Ala507Thr
ENST00000471181.6:c.4894G>A	ENSP00000418960.2:p.Ala1632Thr
ENST00000478531.5:c.1519G>A	ENSP00000420412.1:p.Ala507Thr
ENST00000484087.5:c.1144G>A	ENSP00000419481.1:p.Ala382Thr
ENST00000491747.6:c.1519G>A	ENSP00000420705.2:p.Ala507Thr
ENST00000493795.5:c.4690G>A	ENSP00000418775.1:p.Ala1564Thr
ENST00000493919.5:c.1381G>A	ENSP00000418819.1:p.Ala461Thr
ENST00000586385.5:c.5-7132G>A	ENSP00000465818.1:n.5-7132G>A
ENST00000591534.5:c.304G>A	ENSP00000467329.1:p.Ala102Thr
ENST00000591849.5:c.-98-20893G>A	ENSP00000465347.1:n.-98-20893G>A
NM_007294.3:c.4831G>A , LRG_292t1:c.4831G>A	NP_009225.1:p.Ala1611Thr
NM_007297.3:c.4690G>A	NP_009228.2:p.Ala1564Thr
NM_007298.3:c.1519G>A	NP_009229.2:p.Ala507Thr
NM_007299.3:c.1519G>A	NP_009230.2:p.Ala507Thr
NM_007300.3:c.4894G>A	NP_009231.2:p.Ala1632Thr
NR_027676.1:n.4967G>A
NM_007294.4:c.4831G>A MANE Select	NP_009225.1:p.Ala1611Thr
NM_007297.4:c.4690G>A	NP_009228.2:p.Ala1564Thr
NM_007299.4:c.1519G>A	NP_009230.2:p.Ala507Thr
NM_007300.4:c.4894G>A	NP_009231.2:p.Ala1632Thr
NR_027676.2:n.5008G>A