Canonical Allele Identifier: CA8246914

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89646056C>T , CM000678.2:g.89646056C>T	GRCh38
NC_000016.9:g.89712464C>T , CM000678.1:g.89712464C>T	GRCh37
NC_000016.8:g.88239965C>T	NCBI36
NG_033005.1:g.16730G>A
NG_033005.2:g.16730G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002768.5:c.*10G>A MANE Select	NP_002759.2:n.*10G>A
ENST00000397901.8:c.*10G>A MANE Select	ENSP00000380998.3:n.*10G>A
NM_001083314.3:c.581G>A	NP_001076783.1:p.Arg194His
NM_001083314.4:c.581G>A	NP_001076783.1:p.Arg194His
NM_002768.4:c.*10G>A	NP_002759.2:n.*10G>A
NR_046418.2:n.966G>A
NR_046418.3:n.889G>A
ENST00000397901.7:c.*10G>A	ENSP00000380998.3:n.*10G>A
ENST00000535997.6:c.*10G>A	ENSP00000442120.2:n.*10G>A
ENST00000535997.7:c.620G>A	ENSP00000442120.3:p.Arg207His
ENST00000547687.1:n.386G>A
ENST00000547687.2:n.1349G>A
ENST00000549139.5:n.592G>A
ENST00000549328.1:c.*223G>A	ENSP00000447899.1:n.*223G>A
ENST00000549328.2:c.*223G>A	ENSP00000447899.1:n.*223G>A
ENST00000550102.5:c.*10G>A	ENSP00000449243.1:n.*10G>A
ENST00000551981.6:n.1176G>A
ENST00000674799.1:c.*10G>A	ENSP00000502267.1:n.*10G>A
ENST00000675016.1:c.*1925G>A	ENSP00000502282.1:n.*1925G>A
ENST00000675076.1:n.597G>A
ENST00000675161.1:c.*223G>A	ENSP00000501615.1:n.*223G>A
ENST00000675309.1:c.*474G>A	ENSP00000502291.1:n.*474G>A
ENST00000675536.1:c.656G>A	ENSP00000501759.1:p.Arg219His
ENST00000675778.1:c.*10G>A	ENSP00000502825.1:n.*10G>A
ENST00000675909.1:c.*10G>A	ENSP00000502022.1:n.*10G>A
ENST00000675952.1:n.870G>A
ENST00000676118.1:c.*518G>A	ENSP00000501619.1:n.*518G>A
ENST00000676342.1:n.2059G>A
ENST00000676355.1:c.*10G>A	ENSP00000502147.1:n.*10G>A
ENST00000676402.1:c.*596G>A	ENSP00000501794.1:n.*596G>A
XM_011523099.1:c.926G>A	XP_011521401.1:p.Arg309His