Canonical Allele Identifier: CA400468386

Gene: BCAS3

Linked Data

• dbSNP Id: rs2643103
• gnomAD v4: 17-60709264-A-T
• MyVariant Identifiers: chr17:g.58786625A>T (hg19) ; chr17:g.60709264A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60709264A>T , CM000679.2:g.60709264A>T	GRCh38
NC_000017.10:g.58786625A>T , CM000679.1:g.58786625A>T	GRCh37
NC_000017.9:g.56141407A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000407086.8:c.260A>T MANE Select	ENSP00000385323.2:p.Asn87Ile
ENST00000390652.9:c.260A>T	ENSP00000375067.4:p.Asn87Ile
ENST00000407086.7:c.260A>T	ENSP00000385323.2:p.Asn87Ile
ENST00000408905.7:c.260A>T	ENSP00000386173.2:p.Asn87Ile
ENST00000586241.1:c.*18A>T	ENSP00000464864.1:n.*18A>T
ENST00000588168.5:c.260A>T	ENSP00000465328.1:p.Asn87Ile
ENST00000588462.5:c.260A>T	ENSP00000468592.1:p.Asn87Ile
ENST00000588532.5:c.*389A>T	ENSP00000465441.1:n.*389A>T
ENST00000589222.5:c.260A>T	ENSP00000466078.1:p.Asn87Ile
ENST00000589916.5:n.312A>T
ENST00000591147.5:c.*204A>T	ENSP00000466075.1:n.*204A>T
ENST00000591371.5:n.323A>T
ENST00000592393.5:n.288A>T
ENST00000592848.5:c.*274A>T	ENSP00000467743.1:n.*274A>T
ENST00000593004.5:n.314A>T
NM_001099432.1:c.260A>T	NP_001092902.1:p.Asn87Ile
NM_017679.3:c.260A>T	NP_060149.3:p.Asn87Ile
XM_005257472.1:c.260A>T	XP_005257529.1:p.Asn87Ile
XM_005257475.1:c.260A>T	XP_005257532.1:p.Asn87Ile
XM_011524939.1:c.260A>T	XP_011523241.1:p.Asn87Ile
XM_011524940.1:c.260A>T	XP_011523242.1:p.Asn87Ile
XM_011524941.1:c.260A>T	XP_011523243.1:p.Asn87Ile
XM_011524942.1:c.260A>T	XP_011523244.1:p.Asn87Ile
XM_011524943.1:c.260A>T	XP_011523245.1:p.Asn87Ile
XM_011524944.1:c.260A>T	XP_011523246.1:p.Asn87Ile
XM_011524945.1:c.260A>T	XP_011523247.1:p.Asn87Ile
XM_011524946.1:c.260A>T	XP_011523248.1:p.Asn87Ile
XM_011524947.1:c.260A>T	XP_011523249.1:p.Asn87Ile
XM_011524948.1:c.260A>T	XP_011523250.1:p.Asn87Ile
XM_011524949.1:c.260A>T	XP_011523251.1:p.Asn87Ile
XM_011524950.1:c.260A>T	XP_011523252.1:p.Asn87Ile
XM_011524951.1:c.260A>T	XP_011523253.1:p.Asn87Ile
XR_934493.1:n.320A>T
NM_001099432.2:c.260A>T	NP_001092902.1:p.Asn87Ile
NM_001320470.2:c.260A>T	NP_001307399.1:p.Asn87Ile
NM_001330413.1:c.260A>T	NP_001317342.1:p.Asn87Ile
NM_001330414.1:c.260A>T	NP_001317343.1:p.Asn87Ile
NM_001353144.1:c.260A>T	NP_001340073.1:p.Asn87Ile
NM_001353145.1:c.260A>T	NP_001340074.1:p.Asn87Ile
NM_001353146.1:c.260A>T	NP_001340075.1:p.Asn87Ile
NM_017679.4:c.260A>T	NP_060149.3:p.Asn87Ile
XM_011524939.2:c.260A>T	XP_011523241.1:p.Asn87Ile
XM_011524940.2:c.260A>T	XP_011523242.1:p.Asn87Ile
XM_011524941.2:c.260A>T	XP_011523243.1:p.Asn87Ile
XM_011524942.3:c.260A>T	XP_011523244.1:p.Asn87Ile
XM_011524943.3:c.260A>T	XP_011523245.1:p.Asn87Ile
XM_011524946.3:c.260A>T	XP_011523248.1:p.Asn87Ile
XM_011524947.2:c.260A>T	XP_011523249.1:p.Asn87Ile
XM_011524948.3:c.260A>T	XP_011523250.1:p.Asn87Ile
XM_011524949.3:c.260A>T	XP_011523251.1:p.Asn87Ile
XM_011524950.2:c.260A>T	XP_011523252.1:p.Asn87Ile
XM_011524951.3:c.260A>T	XP_011523253.1:p.Asn87Ile
XM_017024783.2:c.260A>T	XP_016880272.1:p.Asn87Ile
XM_017024784.2:c.260A>T	XP_016880273.1:p.Asn87Ile
XM_017024785.2:c.260A>T	XP_016880274.1:p.Asn87Ile
XM_017024786.2:c.260A>T	XP_016880275.1:p.Asn87Ile
XM_017024787.2:c.260A>T	XP_016880276.1:p.Asn87Ile
XM_017024788.2:c.260A>T	XP_016880277.1:p.Asn87Ile
XM_017024789.2:c.260A>T	XP_016880278.1:p.Asn87Ile
XM_017024790.2:c.260A>T	XP_016880279.1:p.Asn87Ile
XM_017024793.2:c.260A>T	XP_016880282.1:p.Asn87Ile
XM_017024794.2:c.260A>T	XP_016880283.1:p.Asn87Ile
XM_017024795.2:c.260A>T	XP_016880284.1:p.Asn87Ile
XM_024450812.1:c.260A>T	XP_024306580.1:p.Asn87Ile
XR_001752547.2:n.314A>T
XR_934493.3:n.314A>T
NM_001099432.3:c.260A>T	NP_001092902.1:p.Asn87Ile
NM_001320470.3:c.260A>T	NP_001307399.1:p.Asn87Ile
NM_001330413.2:c.260A>T	NP_001317342.1:p.Asn87Ile
NM_001330414.2:c.260A>T	NP_001317343.1:p.Asn87Ile
NM_001353144.2:c.260A>T	NP_001340073.1:p.Asn87Ile
NM_001353145.2:c.260A>T	NP_001340074.1:p.Asn87Ile
NM_001353146.2:c.260A>T	NP_001340075.1:p.Asn87Ile
NM_017679.5:c.260A>T MANE Select	NP_060149.3:p.Asn87Ile