Canonical Allele Identifier: CA8246898

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89646009G>A , CM000678.2:g.89646009G>A	GRCh38
NC_000016.9:g.89712417G>A , CM000678.1:g.89712417G>A	GRCh37
NC_000016.8:g.88239918G>A	NCBI36
NG_033005.1:g.16777C>T
NG_033005.2:g.16777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397901.8:c.*57C>T MANE Select	ENSP00000380998.3:n.*57C>T
ENST00000535997.7:c.667C>T	ENSP00000442120.3:p.Pro223Ser
ENST00000547687.2:n.1396C>T
ENST00000549328.2:c.*270C>T	ENSP00000447899.1:n.*270C>T
ENST00000551981.6:n.1223C>T
ENST00000674799.1:c.*57C>T	ENSP00000502267.1:n.*57C>T
ENST00000675016.1:c.*1972C>T	ENSP00000502282.1:n.*1972C>T
ENST00000675076.1:n.644C>T
ENST00000675161.1:c.*270C>T	ENSP00000501615.1:n.*270C>T
ENST00000675309.1:c.*521C>T	ENSP00000502291.1:n.*521C>T
ENST00000675536.1:c.703C>T	ENSP00000501759.1:p.Pro235Ser
ENST00000675778.1:c.*57C>T	ENSP00000502825.1:n.*57C>T
ENST00000675909.1:c.*57C>T	ENSP00000502022.1:n.*57C>T
ENST00000675952.1:n.917C>T
ENST00000676118.1:c.*565C>T	ENSP00000501619.1:n.*565C>T
ENST00000676342.1:n.2106C>T
ENST00000676355.1:c.*57C>T	ENSP00000502147.1:n.*57C>T
ENST00000676402.1:c.*643C>T	ENSP00000501794.1:n.*643C>T
ENST00000397901.7:c.*57C>T	ENSP00000380998.3:n.*57C>T
ENST00000535997.6:c.*57C>T	ENSP00000442120.2:n.*57C>T
ENST00000547687.1:n.433C>T
ENST00000549139.5:n.639C>T
ENST00000549328.1:c.*270C>T	ENSP00000447899.1:n.*270C>T
ENST00000550102.5:c.*57C>T	ENSP00000449243.1:n.*57C>T
NM_001083314.3:c.628C>T	NP_001076783.1:p.Pro210Ser
NM_002768.4:c.*57C>T	NP_002759.2:n.*57C>T
NR_046418.2:n.1013C>T
XM_011523099.1:c.973C>T	XP_011521401.1:p.Pro325Ser
NM_002768.5:c.*57C>T MANE Select	NP_002759.2:n.*57C>T
NM_001083314.4:c.628C>T	NP_001076783.1:p.Pro210Ser
NR_046418.3:n.936C>T