Canonical Allele Identifier: CA152368

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89646722C>A , CM000678.2:g.89646722C>A	GRCh38
NC_000016.9:g.89713130C>A , CM000678.1:g.89713130C>A	GRCh37
NC_000016.8:g.88240631C>A	NCBI36
NG_033005.1:g.16064G>T
NG_033005.2:g.16064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397901.8:c.382-8G>T MANE Select	ENSP00000380998.3:n.382-8G>T
ENST00000535997.7:c.393G>T	ENSP00000442120.3:p.Leu131=
ENST00000547687.2:n.1122G>T
ENST00000549328.2:c.*4-8G>T	ENSP00000447899.1:n.*4-8G>T
ENST00000551981.6:n.949G>T
ENST00000674799.1:c.190-8G>T	ENSP00000502267.1:n.190-8G>T
ENST00000675016.1:c.*1706-8G>T	ENSP00000502282.1:n.*1706-8G>T
ENST00000675076.1:n.378-8G>T
ENST00000675161.1:c.*4-8G>T	ENSP00000501615.1:n.*4-8G>T
ENST00000675309.1:c.*255-8G>T	ENSP00000502291.1:n.*255-8G>T
ENST00000675536.1:c.437-8G>T	ENSP00000501759.1:n.437-8G>T
ENST00000675778.1:c.235-8G>T	ENSP00000502825.1:n.235-8G>T
ENST00000675909.1:c.190-8G>T	ENSP00000502022.1:n.190-8G>T
ENST00000675952.1:n.651-8G>T
ENST00000676118.1:c.*299-8G>T	ENSP00000501619.1:n.*299-8G>T
ENST00000676342.1:n.1840-8G>T
ENST00000676355.1:c.391-8G>T	ENSP00000502147.1:n.391-8G>T
ENST00000676402.1:c.*377-8G>T	ENSP00000501794.1:n.*377-8G>T
ENST00000397901.7:c.382-8G>T	ENSP00000380998.3:n.382-8G>T
ENST00000535997.6:c.190-8G>T	ENSP00000442120.2:n.190-8G>T
ENST00000547687.1:n.159G>T
ENST00000549139.5:n.373-8G>T
ENST00000549328.1:c.*4-8G>T	ENSP00000447899.1:n.*4-8G>T
ENST00000550102.5:c.355-8G>T	ENSP00000449243.1:n.355-8G>T
NM_001083314.3:c.362-8G>T	NP_001076783.1:n.362-8G>T
NM_002768.4:c.382-8G>T	NP_002759.2:n.382-8G>T
NR_046418.2:n.747-8G>T
XM_011523099.1:c.707-8G>T	XP_011521401.1:n.707-8G>T
NM_002768.5:c.382-8G>T MANE Select	NP_002759.2:n.382-8G>T
NM_001083314.4:c.362-8G>T	NP_001076783.1:n.362-8G>T
NR_046418.3:n.670-8G>T