Canonical Allele Identifier: CA6660113

Gene: AVIL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57810500T>C , CM000674.2:g.57810500T>C	GRCh38
NC_000012.11:g.58204283T>C , CM000674.1:g.58204283T>C	GRCh37
NC_000012.10:g.56490550T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006576.4:c.610A>G MANE Select	NP_006567.3:p.Lys204Glu
ENST00000549994.2:c.610A>G MANE Select	ENSP00000449239.2:p.Lys204Glu
NM_006576.3:c.610A>G	NP_006567.3:p.Lys204Glu
ENST00000257861.7:c.610A>G	ENSP00000257861.3:p.Lys204Glu
ENST00000548843.1:n.544A>G
ENST00000549851.5:c.*494A>G	ENSP00000450188.1:n.*494A>G
XM_011537766.1:c.694A>G	XP_011536068.1:p.Lys232Glu
XM_011537767.1:c.610A>G	XP_011536069.1:p.Lys204Glu
XM_011537768.1:c.694A>G	XP_011536070.1:p.Lys232Glu
XM_011537769.1:c.541A>G	XP_011536071.1:p.Lys181Glu
XM_011537770.1:c.541A>G	XP_011536072.1:p.Lys181Glu
XM_017018710.2:c.610A>G	XP_016874199.1:p.Lys204Glu
XM_017018711.2:c.541A>G	XP_016874200.1:p.Lys181Glu
XM_017018712.2:c.541A>G	XP_016874201.1:p.Lys181Glu
XM_017018713.2:c.541A>G	XP_016874202.1:p.Lys181Glu
XM_024448800.1:c.541A>G	XP_024304568.1:p.Lys181Glu