Canonical Allele Identifier: CA003079

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55316
• ClinVar RCV Id: RCV000112421 ; RCV000215609
• dbSNP Id: rs1800726
• MyVariant Identifiers: chr17:g.41223010C>T (hg19) ; chr17:g.43070993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070993C>T , CM000679.2:g.43070993C>T	GRCh38
NC_000017.10:g.41223010C>T , CM000679.1:g.41223010C>T	GRCh37
NC_000017.9:g.38476536C>T	NCBI36
NG_005905.2:g.146991G>A , LRG_292:g.146991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4918G>A	ENSP00000417241.2:p.Ala1640Thr
ENST00000470026.6:c.4921G>A	ENSP00000419274.2:p.Ala1641Thr
ENST00000473961.6:c.4795G>A	ENSP00000420201.2:p.Ala1599Thr
ENST00000476777.6:c.4915G>A	ENSP00000417554.2:p.Ala1639Thr
ENST00000477152.6:c.4843G>A	ENSP00000419988.2:p.Ala1615Thr
ENST00000478531.6:c.1609G>A	ENSP00000420412.2:p.Ala537Thr
ENST00000489037.2:c.4843G>A	ENSP00000420781.2:p.Ala1615Thr
ENST00000493919.6:c.1471G>A	ENSP00000418819.2:p.Ala491Thr
ENST00000494123.6:c.4921G>A	ENSP00000419103.2:p.Ala1641Thr
ENST00000497488.2:c.4033G>A	ENSP00000418986.2:p.Ala1345Thr
ENST00000618469.2:c.4921G>A	ENSP00000478114.2:p.Ala1641Thr
ENST00000634433.2:c.4798G>A	ENSP00000489431.2:p.Ala1600Thr
ENST00000644379.2:c.4987G>A	ENSP00000496570.2:p.Ala1663Thr
ENST00000644555.2:c.1471G>A	ENSP00000494614.2:p.Ala491Thr
ENST00000652672.2:c.4780G>A	ENSP00000498906.2:p.Ala1594Thr
ENST00000484087.6:c.1483G>A	ENSP00000419481.2:p.Ala495Thr
ENST00000700182.1:c.1528G>A	ENSP00000514849.1:p.Ala510Thr
ENST00000357654.9:c.4921G>A MANE Select	ENSP00000350283.3:p.Ala1641Thr
ENST00000471181.7:c.4984G>A	ENSP00000418960.2:p.Ala1662Thr
ENST00000644379.1:c.1308G>A
ENST00000352993.7:c.1495G>A	ENSP00000312236.5:p.Ala499Thr
ENST00000357654.7:c.4921G>A	ENSP00000350283.3:p.Ala1641Thr
ENST00000461221.5:c.*4704G>A	ENSP00000418548.1:n.*4704G>A
ENST00000468300.5:c.1609G>A	ENSP00000417148.1:p.Ala537Thr
ENST00000471181.6:c.4984G>A	ENSP00000418960.2:p.Ala1662Thr
ENST00000472490.1:n.74G>A
ENST00000478531.5:c.1609G>A	ENSP00000420412.1:p.Ala537Thr
ENST00000484087.5:c.1234G>A	ENSP00000419481.1:p.Ala412Thr
ENST00000491747.6:c.1609G>A	ENSP00000420705.2:p.Ala537Thr
ENST00000493795.5:c.4780G>A	ENSP00000418775.1:p.Ala1594Thr
ENST00000493919.5:c.1471G>A	ENSP00000418819.1:p.Ala491Thr
ENST00000586385.5:c.5-7042G>A	ENSP00000465818.1:n.5-7042G>A
ENST00000591534.5:c.394G>A	ENSP00000467329.1:p.Ala132Thr
ENST00000591849.5:c.-98-20803G>A	ENSP00000465347.1:n.-98-20803G>A
NM_007294.3:c.4921G>A , LRG_292t1:c.4921G>A	NP_009225.1:p.Ala1641Thr
NM_007297.3:c.4780G>A	NP_009228.2:p.Ala1594Thr
NM_007298.3:c.1609G>A	NP_009229.2:p.Ala537Thr
NM_007299.3:c.1609G>A	NP_009230.2:p.Ala537Thr
NM_007300.3:c.4984G>A	NP_009231.2:p.Ala1662Thr
NR_027676.1:n.5057G>A
NM_007294.4:c.4921G>A MANE Select	NP_009225.1:p.Ala1641Thr
NM_007297.4:c.4780G>A	NP_009228.2:p.Ala1594Thr
NM_007299.4:c.1609G>A	NP_009230.2:p.Ala537Thr
NM_007300.4:c.4984G>A	NP_009231.2:p.Ala1662Thr
NR_027676.2:n.5098G>A