Canonical Allele Identifier: CA385555691

Gene: AVIL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57811035T>A , CM000674.2:g.57811035T>A	GRCh38
NC_000012.11:g.58204818T>A , CM000674.1:g.58204818T>A	GRCh37
NC_000012.10:g.56491085T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006576.4:c.431A>T MANE Select	NP_006567.3:p.Asn144Ile
ENST00000549994.2:c.431A>T MANE Select	ENSP00000449239.2:p.Asn144Ile
NM_006576.3:c.431A>T	NP_006567.3:p.Asn144Ile
ENST00000257861.7:c.431A>T	ENSP00000257861.3:p.Asn144Ile
ENST00000548843.1:n.365A>T
ENST00000549851.5:c.*315A>T	ENSP00000450188.1:n.*315A>T
ENST00000549994.1:c.431A>T	ENSP00000449239.1:p.Asn144Ile
XM_011537766.1:c.515A>T	XP_011536068.1:p.Asn172Ile
XM_011537767.1:c.431A>T	XP_011536069.1:p.Asn144Ile
XM_011537768.1:c.515A>T	XP_011536070.1:p.Asn172Ile
XM_011537769.1:c.362A>T	XP_011536071.1:p.Asn121Ile
XM_011537770.1:c.362A>T	XP_011536072.1:p.Asn121Ile
XM_017018710.2:c.431A>T	XP_016874199.1:p.Asn144Ile
XM_017018711.2:c.362A>T	XP_016874200.1:p.Asn121Ile
XM_017018712.2:c.362A>T	XP_016874201.1:p.Asn121Ile
XM_017018713.2:c.362A>T	XP_016874202.1:p.Asn121Ile
XM_024448800.1:c.362A>T	XP_024304568.1:p.Asn121Ile