Canonical Allele Identifier: CA10591173

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868117
• ClinVar RCV Id: RCV001076945
• dbSNP Id: rs2051857855
• MyVariant Identifiers: chr17:g.41215359C>G (hg19) ; chr17:g.43063342C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063342C>G , CM000679.2:g.43063342C>G	GRCh38
NC_000017.10:g.41215359C>G , CM000679.1:g.41215359C>G	GRCh37
NC_000017.9:g.38468885C>G	NCBI36
NG_005905.2:g.154642G>C , LRG_292:g.154642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5181G>C	ENSP00000417241.2:p.Met1727Ile
ENST00000470026.6:c.5184G>C	ENSP00000419274.2:p.Met1728Ile
ENST00000473961.6:c.5058G>C	ENSP00000420201.2:p.Met1686Ile
ENST00000476777.6:c.5178G>C	ENSP00000417554.2:p.Met1726Ile
ENST00000477152.6:c.5106G>C	ENSP00000419988.2:p.Met1702Ile
ENST00000478531.6:c.1872G>C	ENSP00000420412.2:p.Met624Ile
ENST00000489037.2:c.5106G>C	ENSP00000420781.2:p.Met1702Ile
ENST00000493919.6:c.1734G>C	ENSP00000418819.2:p.Met578Ile
ENST00000494123.6:c.5184G>C	ENSP00000419103.2:p.Met1728Ile
ENST00000497488.2:c.4296G>C	ENSP00000418986.2:p.Met1432Ile
ENST00000618469.2:c.5184G>C	ENSP00000478114.2:p.Met1728Ile
ENST00000634433.2:c.5061G>C	ENSP00000489431.2:p.Met1687Ile
ENST00000644379.2:c.5250G>C	ENSP00000496570.2:p.Met1750Ile
ENST00000644555.2:c.1734G>C	ENSP00000494614.2:p.Met578Ile
ENST00000652672.2:c.5043G>C	ENSP00000498906.2:p.Met1681Ile
ENST00000484087.6:c.1746G>C	ENSP00000419481.2:p.Met582Ile
ENST00000357654.9:c.5184G>C MANE Select	ENSP00000350283.3:p.Met1728Ile
ENST00000471181.7:c.5247G>C	ENSP00000418960.2:p.Met1749Ile
ENST00000644379.1:c.1571G>C
ENST00000352993.7:c.1758G>C	ENSP00000312236.5:p.Met586Ile
ENST00000357654.7:c.5184G>C	ENSP00000350283.3:p.Met1728Ile
ENST00000461221.5:c.*4967G>C	ENSP00000418548.1:n.*4967G>C
ENST00000468300.5:c.1872G>C	ENSP00000417148.1:p.Met624Ile
ENST00000471181.6:c.5247G>C	ENSP00000418960.2:p.Met1749Ile
ENST00000491747.6:c.1872G>C	ENSP00000420705.2:p.Met624Ile
ENST00000493795.5:c.5043G>C	ENSP00000418775.1:p.Met1681Ile
ENST00000586385.5:c.114G>C	ENSP00000465818.1:p.Met38Ile
ENST00000591534.5:c.657G>C	ENSP00000467329.1:p.Met219Ile
ENST00000591849.5:c.-98-13152G>C	ENSP00000465347.1:n.-98-13152G>C
NM_007294.3:c.5184G>C , LRG_292t1:c.5184G>C	NP_009225.1:p.Met1728Ile
NM_007297.3:c.5043G>C	NP_009228.2:p.Met1681Ile
NM_007298.3:c.1872G>C	NP_009229.2:p.Met624Ile
NM_007299.3:c.1872G>C	NP_009230.2:p.Met624Ile
NM_007300.3:c.5247G>C	NP_009231.2:p.Met1749Ile
NR_027676.1:n.5320G>C
NM_007294.4:c.5184G>C MANE Select	NP_009225.1:p.Met1728Ile
NM_007297.4:c.5043G>C	NP_009228.2:p.Met1681Ile
NM_007299.4:c.1872G>C	NP_009230.2:p.Met624Ile
NM_007300.4:c.5247G>C	NP_009231.2:p.Met1749Ile
NR_027676.2:n.5361G>C