Canonical Allele Identifier: CA8247079

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89647348C>T , CM000678.2:g.89647348C>T	GRCh38
NC_000016.9:g.89713756C>T , CM000678.1:g.89713756C>T	GRCh37
NC_000016.8:g.88241257C>T	NCBI36
NG_033005.1:g.15438G>A
NG_033005.2:g.15438G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002768.5:c.253-17G>A MANE Select	NP_002759.2:n.253-17G>A
ENST00000397901.8:c.253-17G>A MANE Select	ENSP00000380998.3:n.253-17G>A
NM_001083314.3:c.233-17G>A	NP_001076783.1:n.233-17G>A
NM_001083314.4:c.233-17G>A	NP_001076783.1:n.233-17G>A
NM_002768.4:c.253-17G>A	NP_002759.2:n.253-17G>A
NR_046418.2:n.450-17G>A
NR_046418.3:n.373-17G>A
ENST00000397901.7:c.253-17G>A	ENSP00000380998.3:n.253-17G>A
ENST00000535997.6:c.61-17G>A	ENSP00000442120.2:n.61-17G>A
ENST00000535997.7:c.253-17G>A	ENSP00000442120.3:n.253-17G>A
ENST00000547614.5:n.366-17G>A
ENST00000547687.2:n.496G>A
ENST00000548650.1:n.190-17G>A
ENST00000549139.5:n.244-17G>A
ENST00000549328.1:c.253-17G>A	ENSP00000447899.1:n.253-17G>A
ENST00000549328.2:c.253-17G>A	ENSP00000447899.1:n.253-17G>A
ENST00000550102.5:c.226-17G>A	ENSP00000449243.1:n.226-17G>A
ENST00000551981.5:n.270-17G>A
ENST00000551981.6:n.340-17G>A
ENST00000674799.1:c.61-17G>A	ENSP00000502267.1:n.61-17G>A
ENST00000675016.1:c.*1560G>A	ENSP00000502282.1:n.*1560G>A
ENST00000675076.1:n.249-17G>A
ENST00000675161.1:c.253-17G>A	ENSP00000501615.1:n.253-17G>A
ENST00000675309.1:c.*126-17G>A	ENSP00000502291.1:n.*126-17G>A
ENST00000675536.1:c.308-17G>A	ENSP00000501759.1:n.308-17G>A
ENST00000675778.1:c.106-17G>A	ENSP00000502825.1:n.106-17G>A
ENST00000675909.1:c.61-17G>A	ENSP00000502022.1:n.61-17G>A
ENST00000675952.1:n.522-17G>A
ENST00000676118.1:c.*170-17G>A	ENSP00000501619.1:n.*170-17G>A
ENST00000676342.1:n.1694G>A
ENST00000676355.1:c.262-17G>A	ENSP00000502147.1:n.262-17G>A
ENST00000676402.1:c.*231G>A	ENSP00000501794.1:n.*231G>A
XM_011523097.1:c.*136G>A	XP_011521399.1:n.*136G>A
XM_011523098.1:c.*136G>A	XP_011521400.1:n.*136G>A
XM_011523099.1:c.578-17G>A	XP_011521401.1:n.578-17G>A