Canonical Allele Identifier: CA376974554

Gene: BICC1

Linked Data

• ClinVar Variation Id: 2995850
• ClinVar RCV Id: RCV003853937
• dbSNP Id: rs1314736207
• MyVariant Identifiers: chr10:g.60559004C>T (hg19) ; chr10:g.58799244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.58799244C>T , CM000672.2:g.58799244C>T	GRCh38
NC_000010.10:g.60559004C>T , CM000672.1:g.60559004C>T	GRCh37
NC_000010.9:g.60229010C>T	NCBI36
NG_029759.2:g.291101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373886.8:c.1717C>T MANE Select	ENSP00000362993.3:p.His573Tyr
ENST00000263103.1:c.595C>T	ENSP00000263103.1:p.His199Tyr
ENST00000373886.7:c.1717C>T	ENSP00000362993.3:p.His573Tyr
NM_001080512.2:c.1717C>T	NP_001073981.1:p.His573Tyr
XM_005270169.3:c.1576C>T	XP_005270226.1:p.His526Tyr
XM_011540185.1:c.1789C>T	XP_011538487.1:p.His597Tyr
XM_011540186.1:c.1789C>T	XP_011538488.1:p.His597Tyr
XM_011540187.1:c.1789C>T	XP_011538489.1:p.His597Tyr
XM_011540188.1:c.1573C>T	XP_011538490.1:p.His525Tyr
XM_011540189.1:c.1561C>T	XP_011538491.1:p.His521Tyr
XM_011540190.1:c.1477C>T	XP_011538492.1:p.His493Tyr
XM_011540191.1:c.1333C>T	XP_011538493.1:p.His445Tyr
XM_005270169.5:c.1576C>T	XP_005270226.1:p.His526Tyr
XM_011540185.2:c.1789C>T	XP_011538487.1:p.His597Tyr
XM_011540190.3:c.1477C>T	XP_011538492.1:p.His493Tyr
XM_011540191.2:c.1333C>T	XP_011538493.1:p.His445Tyr
XM_017016677.1:c.1585C>T	XP_016872166.1:p.His529Tyr
XM_017016678.1:c.1573C>T	XP_016872167.1:p.His525Tyr
XM_024448174.1:c.1804C>T	XP_024303942.1:p.His602Tyr
XM_024448175.1:c.1477C>T	XP_024303943.1:p.His493Tyr
NM_001080512.3:c.1717C>T MANE Select	NP_001073981.1:p.His573Tyr