Canonical Allele Identifier: CA003237

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55398
• ClinVar RCV Id: RCV000112497 ; RCV001306989
• dbSNP Id: rs41293459
• MyVariant Identifiers: chr17:g.41215947C>A (hg19) ; chr17:g.43063930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063930C>A , CM000679.2:g.43063930C>A	GRCh38
NC_000017.10:g.41215947C>A , CM000679.1:g.41215947C>A	GRCh37
NC_000017.9:g.38469473C>A	NCBI36
NG_005905.2:g.154054G>T , LRG_292:g.154054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5093G>T	ENSP00000417241.2:p.Arg1698Leu
ENST00000470026.6:c.5096G>T	ENSP00000419274.2:p.Arg1699Leu
ENST00000473961.6:c.4970G>T	ENSP00000420201.2:p.Arg1657Leu
ENST00000476777.6:c.5090G>T	ENSP00000417554.2:p.Arg1697Leu
ENST00000477152.6:c.5018G>T	ENSP00000419988.2:p.Arg1673Leu
ENST00000478531.6:c.1784G>T	ENSP00000420412.2:p.Arg595Leu
ENST00000489037.2:c.5018G>T	ENSP00000420781.2:p.Arg1673Leu
ENST00000493919.6:c.1646G>T	ENSP00000418819.2:p.Arg549Leu
ENST00000494123.6:c.5096G>T	ENSP00000419103.2:p.Arg1699Leu
ENST00000497488.2:c.4208G>T	ENSP00000418986.2:p.Arg1403Leu
ENST00000618469.2:c.5096G>T	ENSP00000478114.2:p.Arg1699Leu
ENST00000634433.2:c.4973G>T	ENSP00000489431.2:p.Arg1658Leu
ENST00000644379.2:c.5162G>T	ENSP00000496570.2:p.Arg1721Leu
ENST00000644555.2:c.1646G>T	ENSP00000494614.2:p.Arg549Leu
ENST00000652672.2:c.4955G>T	ENSP00000498906.2:p.Arg1652Leu
ENST00000484087.6:c.1658G>T	ENSP00000419481.2:p.Arg553Leu
ENST00000357654.9:c.5096G>T MANE Select	ENSP00000350283.3:p.Arg1699Leu
ENST00000471181.7:c.5159G>T	ENSP00000418960.2:p.Arg1720Leu
ENST00000644379.1:c.1483G>T
ENST00000352993.7:c.1670G>T	ENSP00000312236.5:p.Arg557Leu
ENST00000357654.7:c.5096G>T	ENSP00000350283.3:p.Arg1699Leu
ENST00000461221.5:c.*4879G>T	ENSP00000418548.1:n.*4879G>T
ENST00000468300.5:c.1784G>T	ENSP00000417148.1:p.Arg595Leu
ENST00000471181.6:c.5159G>T	ENSP00000418960.2:p.Arg1720Leu
ENST00000478531.5:c.1784G>T	ENSP00000420412.1:p.Arg595Leu
ENST00000484087.5:c.1409G>T	ENSP00000419481.1:p.Arg470Leu
ENST00000491747.6:c.1784G>T	ENSP00000420705.2:p.Arg595Leu
ENST00000493795.5:c.4955G>T	ENSP00000418775.1:p.Arg1652Leu
ENST00000493919.5:c.1646G>T	ENSP00000418819.1:p.Arg549Leu
ENST00000586385.5:c.26G>T	ENSP00000465818.1:p.Arg9Leu
ENST00000591534.5:c.569G>T	ENSP00000467329.1:p.Arg190Leu
ENST00000591849.5:c.-98-13740G>T	ENSP00000465347.1:n.-98-13740G>T
NM_007294.3:c.5096G>T , LRG_292t1:c.5096G>T	NP_009225.1:p.Arg1699Leu
NM_007297.3:c.4955G>T	NP_009228.2:p.Arg1652Leu
NM_007298.3:c.1784G>T	NP_009229.2:p.Arg595Leu
NM_007299.3:c.1784G>T	NP_009230.2:p.Arg595Leu
NM_007300.3:c.5159G>T	NP_009231.2:p.Arg1720Leu
NR_027676.1:n.5232G>T
NM_007294.4:c.5096G>T MANE Select	NP_009225.1:p.Arg1699Leu
NM_007297.4:c.4955G>T	NP_009228.2:p.Arg1652Leu
NM_007299.4:c.1784G>T	NP_009230.2:p.Arg595Leu
NM_007300.4:c.5159G>T	NP_009231.2:p.Arg1720Leu
NR_027676.2:n.5273G>T