Canonical Allele Identifier: CA385534616

Gene: AVIL TSFM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57799891A>C , CM000674.2:g.57799891A>C	GRCh38
NC_000012.11:g.58193674A>C , CM000674.1:g.58193674A>C	GRCh37
NC_000012.10:g.56479941A>C	NCBI36
NG_016971.1:g.22147A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006576.4:c.2250T>G (AVIL) MANE Select	NP_006567.3:p.Asn750Lys
ENST00000549994.2:c.2250T>G (AVIL) MANE Select	ENSP00000449239.2:p.Asn750Lys
NM_001172697.1:c.572-2664A>C (TSFM)	NP_001166168.1:n.572-2664A>C
NM_001172697.2:c.572-2664A>C (TSFM)	NP_001166168.1:n.572-2664A>C
NM_006576.3:c.2250T>G (AVIL)	NP_006567.3:p.Asn750Lys
ENST00000257861.7:c.2250T>G (AVIL)	ENSP00000257861.3:p.Asn750Lys
ENST00000543727.5:c.572-2664A>C (TSFM)	ENSP00000439342.1:n.572-2664A>C
ENST00000546952.1:n.763T>G (AVIL)
ENST00000548851.5:c.571+6818A>C (TSFM)	ENSP00000450041.1:n.571+6818A>C
ENST00000549851.5:c.*2134T>G (AVIL)	ENSP00000450188.1:n.*2134T>G
ENST00000550559.5:c.572-2283A>C (TSFM)	ENSP00000448575.1:n.572-2283A>C
ENST00000551248.1:n.304T>G (AVIL)
XM_011537766.1:c.2466T>G (AVIL)	XP_011536068.1:p.Asn822Lys
XM_011537767.1:c.2382T>G (AVIL)	XP_011536069.1:p.Asn794Lys
XM_011537768.1:c.2334T>G (AVIL)	XP_011536070.1:p.Asn778Lys
XM_011537769.1:c.2313T>G (AVIL)	XP_011536071.1:p.Asn771Lys
XM_011537770.1:c.2313T>G (AVIL)	XP_011536072.1:p.Asn771Lys
XM_011537771.1:c.1485T>G (AVIL)	XP_011536073.1:p.Asn495Lys
XM_011537772.1:c.1431T>G (AVIL)	XP_011536074.1:p.Asn477Lys
XM_017018710.2:c.2250T>G (AVIL)	XP_016874199.1:p.Asn750Lys
XM_017018711.2:c.2181T>G (AVIL)	XP_016874200.1:p.Asn727Lys
XM_017018712.2:c.2181T>G (AVIL)	XP_016874201.1:p.Asn727Lys
XM_017018713.2:c.2181T>G (AVIL)	XP_016874202.1:p.Asn727Lys
XM_017018714.2:c.1353T>G (AVIL)	XP_016874203.1:p.Asn451Lys
XM_017018715.2:c.1299T>G (AVIL)	XP_016874204.1:p.Asn433Lys
XM_024448800.1:c.2181T>G (AVIL)	XP_024304568.1:p.Asn727Lys