Canonical Allele Identifier: CA397438902

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89651648T>C , CM000678.2:g.89651648T>C	GRCh38
NC_000016.9:g.89718056T>C , CM000678.1:g.89718056T>C	GRCh37
NC_000016.8:g.88245557T>C	NCBI36
NG_033005.1:g.11138A>G
NG_033005.2:g.11138A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002768.5:c.28-2A>G MANE Select	NP_002759.2:n.28-2A>G
ENST00000397901.8:c.28-2A>G MANE Select	ENSP00000380998.3:n.28-2A>G
NM_001083314.3:c.8-2A>G	NP_001076783.1:n.8-2A>G
NM_001083314.4:c.8-2A>G	NP_001076783.1:n.8-2A>G
NM_002768.4:c.28-2A>G	NP_002759.2:n.28-2A>G
NR_046418.2:n.225-2A>G
NR_046418.3:n.148-2A>G
ENST00000397901.7:c.28-2A>G	ENSP00000380998.3:n.28-2A>G
ENST00000535997.6:c.-165-2A>G	ENSP00000442120.2:n.-165-2A>G
ENST00000535997.7:c.28-2A>G	ENSP00000442120.3:n.28-2A>G
ENST00000547614.5:n.141-2A>G
ENST00000549328.1:c.28-2A>G	ENSP00000447899.1:n.28-2A>G
ENST00000549328.2:c.28-2A>G	ENSP00000447899.1:n.28-2A>G
ENST00000550102.5:c.28-2A>G	ENSP00000449243.1:n.28-2A>G
ENST00000550872.1:n.137-2A>G
ENST00000551981.5:n.45-2A>G
ENST00000551981.6:n.115-2A>G
ENST00000674799.1:c.-165-2A>G	ENSP00000502267.1:n.-165-2A>G
ENST00000675016.1:c.28-2A>G	ENSP00000502282.1:n.28-2A>G
ENST00000675076.1:n.22A>G
ENST00000675161.1:c.28-2A>G	ENSP00000501615.1:n.28-2A>G
ENST00000675309.1:c.28-2A>G	ENSP00000502291.1:n.28-2A>G
ENST00000675536.1:c.28-2A>G	ENSP00000501759.1:n.28-2A>G
ENST00000675778.1:c.28-2A>G	ENSP00000502825.1:n.28-2A>G
ENST00000675909.1:c.-165-2A>G	ENSP00000502022.1:n.-165-2A>G
ENST00000675942.1:c.*467-2A>G	ENSP00000502409.1:n.*467-2A>G
ENST00000675952.1:n.297-2A>G
ENST00000676118.1:c.28-2A>G	ENSP00000501619.1:n.28-2A>G
ENST00000676355.1:c.37-2A>G	ENSP00000502147.1:n.37-2A>G
ENST00000676402.1:c.28-2A>G	ENSP00000501794.1:n.28-2A>G
XM_011523097.1:c.353-2A>G	XP_011521399.1:n.353-2A>G
XM_011523098.1:c.8-2A>G	XP_011521400.1:n.8-2A>G
XM_011523099.1:c.353-2A>G	XP_011521401.1:n.353-2A>G