Canonical Allele Identifier: CA385544369

Gene: AVIL TSFM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57807485C>T , CM000674.2:g.57807485C>T	GRCh38
NC_000012.11:g.58201268C>T , CM000674.1:g.58201268C>T	GRCh37
NC_000012.10:g.56487535C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006576.4:c.1337G>A (AVIL) MANE Select	NP_006567.3:p.Arg446His
ENST00000549994.2:c.1337G>A (AVIL) MANE Select	ENSP00000449239.2:p.Arg446His
NM_006576.3:c.1337G>A (AVIL)	NP_006567.3:p.Arg446His
ENST00000257861.7:c.1337G>A (AVIL)	ENSP00000257861.3:p.Arg446His
ENST00000548843.1:n.1271G>A (AVIL)
ENST00000548851.5:c.572-379C>T (TSFM)	ENSP00000450041.1:n.572-379C>T
ENST00000549548.1:n.986+709G>A (AVIL)
ENST00000549753.5:n.57G>A (AVIL)
ENST00000549851.5:c.*1221G>A (AVIL)	ENSP00000450188.1:n.*1221G>A
ENST00000550537.5:n.642G>A (AVIL)
XM_011537766.1:c.1421G>A (AVIL)	XP_011536068.1:p.Arg474His
XM_011537767.1:c.1337G>A (AVIL)	XP_011536069.1:p.Arg446His
XM_011537768.1:c.1421G>A (AVIL)	XP_011536070.1:p.Arg474His
XM_011537769.1:c.1268G>A (AVIL)	XP_011536071.1:p.Arg423His
XM_011537770.1:c.1268G>A (AVIL)	XP_011536072.1:p.Arg423His
XM_011537771.1:c.440G>A (AVIL)	XP_011536073.1:p.Arg147His
XM_011537772.1:c.386G>A (AVIL)	XP_011536074.1:p.Arg129His
XM_017018710.2:c.1337G>A (AVIL)	XP_016874199.1:p.Arg446His
XM_017018711.2:c.1268G>A (AVIL)	XP_016874200.1:p.Arg423His
XM_017018712.2:c.1268G>A (AVIL)	XP_016874201.1:p.Arg423His
XM_017018713.2:c.1268G>A (AVIL)	XP_016874202.1:p.Arg423His
XM_017018714.2:c.440G>A (AVIL)	XP_016874203.1:p.Arg147His
XM_017018715.2:c.386G>A (AVIL)	XP_016874204.1:p.Arg129His
XM_024448800.1:c.1268G>A (AVIL)	XP_024304568.1:p.Arg423His