Canonical Allele Identifier: CA10591176

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063343A>G , CM000679.2:g.43063343A>G	GRCh38
NC_000017.10:g.41215360A>G , CM000679.1:g.41215360A>G	GRCh37
NC_000017.9:g.38468886A>G	NCBI36
NG_005905.2:g.154641T>C , LRG_292:g.154641T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5183T>C MANE Select	NP_009225.1:p.Met1728Thr
ENST00000357654.9:c.5183T>C MANE Select	ENSP00000350283.3:p.Met1728Thr
NM_007294.3:c.5183T>C , LRG_292t1:c.5183T>C	NP_009225.1:p.Met1728Thr
NM_007297.3:c.5042T>C	NP_009228.2:p.Met1681Thr
NM_007297.4:c.5042T>C	NP_009228.2:p.Met1681Thr
NM_007298.3:c.1871T>C	NP_009229.2:p.Met624Thr
NM_007299.3:c.1871T>C	NP_009230.2:p.Met624Thr
NM_007299.4:c.1871T>C	NP_009230.2:p.Met624Thr
NM_007300.3:c.5246T>C	NP_009231.2:p.Met1749Thr
NM_007300.4:c.5246T>C	NP_009231.2:p.Met1749Thr
NR_027676.1:n.5319T>C
NR_027676.2:n.5360T>C
ENST00000352993.7:c.1757T>C	ENSP00000312236.5:p.Met586Thr
ENST00000357654.7:c.5183T>C	ENSP00000350283.3:p.Met1728Thr
ENST00000461221.5:c.*4966T>C	ENSP00000418548.1:n.*4966T>C
ENST00000461574.2:c.5180T>C	ENSP00000417241.2:p.Met1727Thr
ENST00000468300.5:c.1871T>C	ENSP00000417148.1:p.Met624Thr
ENST00000470026.6:c.5183T>C	ENSP00000419274.2:p.Met1728Thr
ENST00000471181.6:c.5246T>C	ENSP00000418960.2:p.Met1749Thr
ENST00000471181.7:c.5246T>C	ENSP00000418960.2:p.Met1749Thr
ENST00000473961.6:c.5057T>C	ENSP00000420201.2:p.Met1686Thr
ENST00000476777.6:c.5177T>C	ENSP00000417554.2:p.Met1726Thr
ENST00000477152.6:c.5105T>C	ENSP00000419988.2:p.Met1702Thr
ENST00000478531.6:c.1871T>C	ENSP00000420412.2:p.Met624Thr
ENST00000484087.6:c.1745T>C	ENSP00000419481.2:p.Met582Thr
ENST00000489037.2:c.5105T>C	ENSP00000420781.2:p.Met1702Thr
ENST00000491747.6:c.1871T>C	ENSP00000420705.2:p.Met624Thr
ENST00000493795.5:c.5042T>C	ENSP00000418775.1:p.Met1681Thr
ENST00000493919.6:c.1733T>C	ENSP00000418819.2:p.Met578Thr
ENST00000494123.6:c.5183T>C	ENSP00000419103.2:p.Met1728Thr
ENST00000497488.2:c.4295T>C	ENSP00000418986.2:p.Met1432Thr
ENST00000586385.5:c.113T>C	ENSP00000465818.1:p.Met38Thr
ENST00000591534.5:c.656T>C	ENSP00000467329.1:p.Met219Thr
ENST00000591849.5:c.-98-13153T>C	ENSP00000465347.1:n.-98-13153T>C
ENST00000618469.2:c.5183T>C	ENSP00000478114.2:p.Met1728Thr
ENST00000634433.2:c.5060T>C	ENSP00000489431.2:p.Met1687Thr
ENST00000644379.1:c.1570T>C
ENST00000644379.2:c.5249T>C	ENSP00000496570.2:p.Met1750Thr
ENST00000644555.2:c.1733T>C	ENSP00000494614.2:p.Met578Thr
ENST00000652672.2:c.5042T>C	ENSP00000498906.2:p.Met1681Thr