Canonical Allele Identifier: CA5508579

Gene: BICC1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.58800201A>C , CM000672.2:g.58800201A>C	GRCh38
NC_000010.10:g.60559961A>C , CM000672.1:g.60559961A>C	GRCh37
NC_000010.9:g.60229967A>C	NCBI36
NG_029759.2:g.292058A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080512.3:c.1733A>C MANE Select	NP_001073981.1:p.Asp578Ala
ENST00000373886.8:c.1733A>C MANE Select	ENSP00000362993.3:p.Asp578Ala
NM_001080512.2:c.1733A>C	NP_001073981.1:p.Asp578Ala
ENST00000263103.1:c.611A>C	ENSP00000263103.1:p.Asp204Ala
ENST00000373886.7:c.1733A>C	ENSP00000362993.3:p.Asp578Ala
XM_005270169.3:c.1592A>C	XP_005270226.1:p.Asp531Ala
XM_005270169.5:c.1592A>C	XP_005270226.1:p.Asp531Ala
XM_011540185.1:c.1805A>C	XP_011538487.1:p.Asp602Ala
XM_011540185.2:c.1805A>C	XP_011538487.1:p.Asp602Ala
XM_011540186.1:c.1805A>C	XP_011538488.1:p.Asp602Ala
XM_011540187.1:c.1805A>C	XP_011538489.1:p.Asp602Ala
XM_011540188.1:c.1589A>C	XP_011538490.1:p.Asp530Ala
XM_011540189.1:c.1577A>C	XP_011538491.1:p.Asp526Ala
XM_011540190.1:c.1493A>C	XP_011538492.1:p.Asp498Ala
XM_011540190.3:c.1493A>C	XP_011538492.1:p.Asp498Ala
XM_011540191.1:c.1349A>C	XP_011538493.1:p.Asp450Ala
XM_011540191.2:c.1349A>C	XP_011538493.1:p.Asp450Ala
XM_017016677.1:c.1601A>C	XP_016872166.1:p.Asp534Ala
XM_017016678.1:c.1589A>C	XP_016872167.1:p.Asp530Ala
XM_024448174.1:c.1820A>C	XP_024303942.1:p.Asp607Ala
XM_024448175.1:c.1493A>C	XP_024303943.1:p.Asp498Ala