Canonical Allele Identifier: CA10593471

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 824612
• ClinVar RCV Id: RCV001021919 ; RCV002250716 ; RCV003492209 ; RCV001862197
• dbSNP Id: rs576828558
• gnomAD v2: 17-41243020-T-C
• gnomAD v3: 17-43091003-T-C
• gnomAD v4: 17-43091003-T-C
• MyVariant Identifiers: chr17:g.41243020T>C (hg19) ; chr17:g.43091003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091003T>C , CM000679.2:g.43091003T>C	GRCh38
NC_000017.10:g.41243020T>C , CM000679.1:g.41243020T>C	GRCh37
NC_000017.9:g.38496546T>C	NCBI36
NG_005905.2:g.126981A>G , LRG_292:g.126981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4126A>G	ENSP00000417241.2:p.Thr1376Ala
ENST00000470026.6:c.4126A>G	ENSP00000419274.2:p.Thr1376Ala
ENST00000473961.6:c.4000A>G	ENSP00000420201.2:p.Thr1334Ala
ENST00000476777.6:c.4123A>G	ENSP00000417554.2:p.Thr1375Ala
ENST00000477152.6:c.4048A>G	ENSP00000419988.2:p.Thr1350Ala
ENST00000478531.6:c.814A>G	ENSP00000420412.2:p.Thr272Ala
ENST00000489037.2:c.4048A>G	ENSP00000420781.2:p.Thr1350Ala
ENST00000493919.6:c.676A>G	ENSP00000418819.2:p.Thr226Ala
ENST00000494123.6:c.4126A>G	ENSP00000419103.2:p.Thr1376Ala
ENST00000497488.2:c.3238A>G	ENSP00000418986.2:p.Thr1080Ala
ENST00000618469.2:c.4126A>G	ENSP00000478114.2:p.Thr1376Ala
ENST00000634433.2:c.4003A>G	ENSP00000489431.2:p.Thr1335Ala
ENST00000644379.2:c.4126A>G	ENSP00000496570.2:p.Thr1376Ala
ENST00000644555.2:c.676A>G	ENSP00000494614.2:p.Thr226Ala
ENST00000652672.2:c.3985A>G	ENSP00000498906.2:p.Thr1329Ala
ENST00000484087.6:c.694A>G	ENSP00000419481.2:p.Thr232Ala
ENST00000700182.1:c.736A>G	ENSP00000514849.1:p.Thr246Ala
ENST00000357654.9:c.4126A>G MANE Select	ENSP00000350283.3:p.Thr1376Ala
ENST00000471181.7:c.4126A>G	ENSP00000418960.2:p.Thr1376Ala
ENST00000644379.1:c.447A>G
ENST00000352993.7:c.700A>G	ENSP00000312236.5:p.Thr234Ala
ENST00000357654.7:c.4126A>G	ENSP00000350283.3:p.Thr1376Ala
ENST00000461221.5:c.*3909A>G	ENSP00000418548.1:n.*3909A>G
ENST00000461574.1:c.420A>G
ENST00000468300.5:c.817A>G	ENSP00000417148.1:p.Thr273Ala
ENST00000471181.6:c.4126A>G	ENSP00000418960.2:p.Thr1376Ala
ENST00000478531.5:c.814A>G	ENSP00000420412.1:p.Thr272Ala
ENST00000484087.5:c.439A>G	ENSP00000419481.1:p.Thr147Ala
ENST00000487825.5:c.442A>G	ENSP00000418212.1:p.Thr148Ala
ENST00000491747.6:c.817A>G	ENSP00000420705.2:p.Thr273Ala
ENST00000493795.5:c.3985A>G	ENSP00000418775.1:p.Thr1329Ala
ENST00000493919.5:c.676A>G	ENSP00000418819.1:p.Thr226Ala
ENST00000586385.5:c.5-27052A>G	ENSP00000465818.1:n.5-27052A>G
ENST00000591534.5:c.-43-16482A>G	ENSP00000467329.1:n.-43-16482A>G
ENST00000591849.5:c.-99+34268A>G	ENSP00000465347.1:n.-99+34268A>G
NM_007294.3:c.4126A>G , LRG_292t1:c.4126A>G	NP_009225.1:p.Thr1376Ala
NM_007297.3:c.3985A>G	NP_009228.2:p.Thr1329Ala
NM_007298.3:c.817A>G	NP_009229.2:p.Thr273Ala
NM_007299.3:c.817A>G	NP_009230.2:p.Thr273Ala
NM_007300.3:c.4126A>G	NP_009231.2:p.Thr1376Ala
NR_027676.1:n.4262A>G
NM_007294.4:c.4126A>G MANE Select	NP_009225.1:p.Thr1376Ala
NM_007297.4:c.3985A>G	NP_009228.2:p.Thr1329Ala
NM_007299.4:c.817A>G	NP_009230.2:p.Thr273Ala
NM_007300.4:c.4126A>G	NP_009231.2:p.Thr1376Ala
NR_027676.2:n.4303A>G