Canonical Allele Identifier: CA8247053

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89647204G>C , CM000678.2:g.89647204G>C	GRCh38
NC_000016.9:g.89713612G>C , CM000678.1:g.89713612G>C	GRCh37
NC_000016.8:g.88241113G>C	NCBI36
NG_033005.1:g.15582C>G
NG_033005.2:g.15582C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002768.5:c.380C>G MANE Select	NP_002759.2:p.Ser127Trp
ENST00000397901.8:c.380C>G MANE Select	ENSP00000380998.3:p.Ser127Trp
NM_001083314.3:c.360C>G	NP_001076783.1:p.Ile120Met
NM_001083314.4:c.360C>G	NP_001076783.1:p.Ile120Met
NM_002768.4:c.380C>G	NP_002759.2:p.Ser127Trp
NR_046418.2:n.577C>G
NR_046418.3:n.500C>G
ENST00000397901.7:c.380C>G	ENSP00000380998.3:p.Ser127Trp
ENST00000535997.6:c.188C>G	ENSP00000442120.2:p.Ser63Trp
ENST00000535997.7:c.380C>G	ENSP00000442120.3:p.Ser127Trp
ENST00000547614.5:n.493C>G
ENST00000547687.2:n.640C>G
ENST00000548650.1:n.317C>G
ENST00000549139.5:n.371C>G
ENST00000549328.1:c.380C>G	ENSP00000447899.1:p.Ser127Trp
ENST00000549328.2:c.380C>G	ENSP00000447899.1:p.Ser127Trp
ENST00000550102.5:c.353C>G	ENSP00000449243.1:p.Ser118Trp
ENST00000551981.5:n.397C>G
ENST00000551981.6:n.467C>G
ENST00000674799.1:c.188C>G	ENSP00000502267.1:p.Ser63Trp
ENST00000675016.1:c.*1704C>G	ENSP00000502282.1:n.*1704C>G
ENST00000675076.1:n.376C>G
ENST00000675161.1:c.380C>G	ENSP00000501615.1:p.Ser127Trp
ENST00000675309.1:c.*253C>G	ENSP00000502291.1:n.*253C>G
ENST00000675536.1:c.435C>G	ENSP00000501759.1:p.Ile145Met
ENST00000675778.1:c.233C>G	ENSP00000502825.1:p.Ser78Trp
ENST00000675909.1:c.188C>G	ENSP00000502022.1:p.Ser63Trp
ENST00000675952.1:n.649C>G
ENST00000676118.1:c.*297C>G	ENSP00000501619.1:n.*297C>G
ENST00000676342.1:n.1838C>G
ENST00000676355.1:c.389C>G	ENSP00000502147.1:p.Ser130Trp
ENST00000676402.1:c.*375C>G	ENSP00000501794.1:n.*375C>G
XM_011523099.1:c.705C>G	XP_011521401.1:p.Ile235Met