Canonical Allele Identifier: CA8247038

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89647167C>G , CM000678.2:g.89647167C>G	GRCh38
NC_000016.9:g.89713575C>G , CM000678.1:g.89713575C>G	GRCh37
NC_000016.8:g.88241076C>G	NCBI36
NG_033005.1:g.15619G>C
NG_033005.2:g.15619G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397901.8:c.381+36G>C MANE Select	ENSP00000380998.3:n.381+36G>C
ENST00000535997.7:c.381+36G>C	ENSP00000442120.3:n.381+36G>C
ENST00000547687.2:n.677G>C
ENST00000549328.2:c.417G>C	ENSP00000447899.1:p.Gly139=
ENST00000551981.6:n.504G>C
ENST00000674799.1:c.189+36G>C	ENSP00000502267.1:n.189+36G>C
ENST00000675016.1:c.*1705+36G>C	ENSP00000502282.1:n.*1705+36G>C
ENST00000675076.1:n.377+36G>C
ENST00000675161.1:c.381+36G>C	ENSP00000501615.1:n.381+36G>C
ENST00000675309.1:c.*254+36G>C	ENSP00000502291.1:n.*254+36G>C
ENST00000675536.1:c.436+36G>C	ENSP00000501759.1:n.436+36G>C
ENST00000675778.1:c.234+36G>C	ENSP00000502825.1:n.234+36G>C
ENST00000675909.1:c.189+36G>C	ENSP00000502022.1:n.189+36G>C
ENST00000675952.1:n.650+36G>C
ENST00000676118.1:c.*298+36G>C	ENSP00000501619.1:n.*298+36G>C
ENST00000676342.1:n.1839+36G>C
ENST00000676355.1:c.390+36G>C	ENSP00000502147.1:n.390+36G>C
ENST00000676402.1:c.*376+36G>C	ENSP00000501794.1:n.*376+36G>C
ENST00000397901.7:c.381+36G>C	ENSP00000380998.3:n.381+36G>C
ENST00000535997.6:c.189+36G>C	ENSP00000442120.2:n.189+36G>C
ENST00000547614.5:n.530G>C
ENST00000548650.1:n.354G>C
ENST00000549139.5:n.372+36G>C
ENST00000549328.1:c.417G>C	ENSP00000447899.1:p.Gly139=
ENST00000550102.5:c.354+36G>C	ENSP00000449243.1:n.354+36G>C
ENST00000551981.5:n.434G>C
NM_001083314.3:c.361+36G>C	NP_001076783.1:n.361+36G>C
NM_002768.4:c.381+36G>C	NP_002759.2:n.381+36G>C
NR_046418.2:n.614G>C
XM_011523099.1:c.706+36G>C	XP_011521401.1:n.706+36G>C
NM_002768.5:c.381+36G>C MANE Select	NP_002759.2:n.381+36G>C
NM_001083314.4:c.361+36G>C	NP_001076783.1:n.361+36G>C
NR_046418.3:n.537G>C