Canonical Allele Identifier: CA10592793

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154072400
• MyVariant Identifiers: chr17:g.41228615C>A (hg19) ; chr17:g.43076598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076598C>A , CM000679.2:g.43076598C>A	GRCh38
NC_000017.10:g.41228615C>A , CM000679.1:g.41228615C>A	GRCh37
NC_000017.9:g.38482141C>A	NCBI36
NG_005905.2:g.141386G>T , LRG_292:g.141386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4371G>T	ENSP00000417241.2:p.Gln1457His
ENST00000470026.6:c.4374G>T	ENSP00000419274.2:p.Gln1458His
ENST00000473961.6:c.4248G>T	ENSP00000420201.2:p.Gln1416His
ENST00000476777.6:c.4368G>T	ENSP00000417554.2:p.Gln1456His
ENST00000477152.6:c.4296G>T	ENSP00000419988.2:p.Gln1432His
ENST00000478531.6:c.1062G>T	ENSP00000420412.2:p.Gln354His
ENST00000489037.2:c.4296G>T	ENSP00000420781.2:p.Gln1432His
ENST00000493919.6:c.924G>T	ENSP00000418819.2:p.Gln308His
ENST00000494123.6:c.4374G>T	ENSP00000419103.2:p.Gln1458His
ENST00000497488.2:c.3486G>T	ENSP00000418986.2:p.Gln1162His
ENST00000618469.2:c.4374G>T	ENSP00000478114.2:p.Gln1458His
ENST00000634433.2:c.4251G>T	ENSP00000489431.2:p.Gln1417His
ENST00000644379.2:c.4440G>T	ENSP00000496570.2:p.Gln1480His
ENST00000644555.2:c.924G>T	ENSP00000494614.2:p.Gln308His
ENST00000652672.2:c.4233G>T	ENSP00000498906.2:p.Gln1411His
ENST00000484087.6:c.936G>T	ENSP00000419481.2:p.Gln312His
ENST00000700182.1:c.981G>T	ENSP00000514849.1:p.Gln327His
ENST00000357654.9:c.4374G>T MANE Select	ENSP00000350283.3:p.Gln1458His
ENST00000471181.7:c.4437G>T	ENSP00000418960.2:p.Gln1479His
ENST00000644379.1:c.761G>T
ENST00000352993.7:c.948G>T	ENSP00000312236.5:p.Gln316His
ENST00000357654.7:c.4374G>T	ENSP00000350283.3:p.Gln1458His
ENST00000461221.5:c.*4157G>T	ENSP00000418548.1:n.*4157G>T
ENST00000461574.1:c.665G>T
ENST00000468300.5:c.1062G>T	ENSP00000417148.1:p.Gln354His
ENST00000471181.6:c.4437G>T	ENSP00000418960.2:p.Gln1479His
ENST00000478531.5:c.1062G>T	ENSP00000420412.1:p.Gln354His
ENST00000484087.5:c.687G>T	ENSP00000419481.1:p.Gln229His
ENST00000487825.5:c.690G>T	ENSP00000418212.1:p.Gln230His
ENST00000491747.6:c.1062G>T	ENSP00000420705.2:p.Gln354His
ENST00000493795.5:c.4233G>T	ENSP00000418775.1:p.Gln1411His
ENST00000493919.5:c.924G>T	ENSP00000418819.1:p.Gln308His
ENST00000586385.5:c.5-12647G>T	ENSP00000465818.1:n.5-12647G>T
ENST00000591534.5:c.-43-2077G>T	ENSP00000467329.1:n.-43-2077G>T
ENST00000591849.5:c.-98-26408G>T	ENSP00000465347.1:n.-98-26408G>T
ENST00000621897.1:n.265G>T
NM_007294.3:c.4374G>T , LRG_292t1:c.4374G>T	NP_009225.1:p.Gln1458His
NM_007297.3:c.4233G>T	NP_009228.2:p.Gln1411His
NM_007298.3:c.1062G>T	NP_009229.2:p.Gln354His
NM_007299.3:c.1062G>T	NP_009230.2:p.Gln354His
NM_007300.3:c.4437G>T	NP_009231.2:p.Gln1479His
NR_027676.1:n.4510G>T
NM_007294.4:c.4374G>T MANE Select	NP_009225.1:p.Gln1458His
NM_007297.4:c.4233G>T	NP_009228.2:p.Gln1411His
NM_007299.4:c.1062G>T	NP_009230.2:p.Gln354His
NM_007300.4:c.4437G>T	NP_009231.2:p.Gln1479His
NR_027676.2:n.4551G>T