Canonical Allele Identifier: CA8246929

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89646481C>T , CM000678.2:g.89646481C>T	GRCh38
NC_000016.9:g.89712889C>T , CM000678.1:g.89712889C>T	GRCh37
NC_000016.8:g.88240390C>T	NCBI36
NG_033005.1:g.16305G>A
NG_033005.2:g.16305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397901.8:c.569+46G>A MANE Select	ENSP00000380998.3:n.569+46G>A
ENST00000535997.7:c.588+46G>A	ENSP00000442120.3:n.588+46G>A
ENST00000547687.2:n.1317+46G>A
ENST00000549328.2:c.*191+46G>A	ENSP00000447899.1:n.*191+46G>A
ENST00000551981.6:n.1144+46G>A
ENST00000674799.1:c.377+46G>A	ENSP00000502267.1:n.377+46G>A
ENST00000675016.1:c.*1893+46G>A	ENSP00000502282.1:n.*1893+46G>A
ENST00000675076.1:n.565+46G>A
ENST00000675161.1:c.*191+46G>A	ENSP00000501615.1:n.*191+46G>A
ENST00000675309.1:c.*442+46G>A	ENSP00000502291.1:n.*442+46G>A
ENST00000675536.1:c.624+46G>A	ENSP00000501759.1:n.624+46G>A
ENST00000675778.1:c.422+46G>A	ENSP00000502825.1:n.422+46G>A
ENST00000675909.1:c.377+46G>A	ENSP00000502022.1:n.377+46G>A
ENST00000675952.1:n.838+46G>A
ENST00000676118.1:c.*486+46G>A	ENSP00000501619.1:n.*486+46G>A
ENST00000676342.1:n.2027+46G>A
ENST00000676355.1:c.578+46G>A	ENSP00000502147.1:n.578+46G>A
ENST00000676402.1:c.*564+46G>A	ENSP00000501794.1:n.*564+46G>A
ENST00000397901.7:c.569+46G>A	ENSP00000380998.3:n.569+46G>A
ENST00000535997.6:c.377+46G>A	ENSP00000442120.2:n.377+46G>A
ENST00000547687.1:n.354+46G>A
ENST00000549139.5:n.560+46G>A
ENST00000549328.1:c.*191+46G>A	ENSP00000447899.1:n.*191+46G>A
ENST00000550102.5:c.542+46G>A	ENSP00000449243.1:n.542+46G>A
NM_001083314.3:c.549+46G>A	NP_001076783.1:n.549+46G>A
NM_002768.4:c.569+46G>A	NP_002759.2:n.569+46G>A
NR_046418.2:n.934+46G>A
XM_011523099.1:c.894+46G>A	XP_011521401.1:n.894+46G>A
NM_002768.5:c.569+46G>A MANE Select	NP_002759.2:n.569+46G>A
NM_001083314.4:c.549+46G>A	NP_001076783.1:n.549+46G>A
NR_046418.3:n.857+46G>A