Canonical Allele Identifier: CA397431729

Gene: CHMP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89646080C>G , CM000678.2:g.89646080C>G	GRCh38
NC_000016.9:g.89712488C>G , CM000678.1:g.89712488C>G	GRCh37
NC_000016.8:g.88239989C>G	NCBI36
NG_033005.1:g.16706G>C
NG_033005.2:g.16706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397901.8:c.577G>C MANE Select	ENSP00000380998.3:p.Ala193Pro
ENST00000535997.7:c.596G>C	ENSP00000442120.3:p.Arg199Pro
ENST00000547687.2:n.1325G>C
ENST00000549328.2:c.*199G>C	ENSP00000447899.1:n.*199G>C
ENST00000551981.6:n.1152G>C
ENST00000674799.1:c.385G>C	ENSP00000502267.1:p.Ala129Pro
ENST00000675016.1:c.*1901G>C	ENSP00000502282.1:n.*1901G>C
ENST00000675076.1:n.573G>C
ENST00000675161.1:c.*199G>C	ENSP00000501615.1:n.*199G>C
ENST00000675309.1:c.*450G>C	ENSP00000502291.1:n.*450G>C
ENST00000675536.1:c.632G>C	ENSP00000501759.1:p.Arg211Pro
ENST00000675778.1:c.430G>C	ENSP00000502825.1:p.Ala144Pro
ENST00000675909.1:c.385G>C	ENSP00000502022.1:p.Ala129Pro
ENST00000675952.1:n.846G>C
ENST00000676118.1:c.*494G>C	ENSP00000501619.1:n.*494G>C
ENST00000676342.1:n.2035G>C
ENST00000676355.1:c.586G>C	ENSP00000502147.1:p.Ala196Pro
ENST00000676402.1:c.*572G>C	ENSP00000501794.1:n.*572G>C
ENST00000397901.7:c.577G>C	ENSP00000380998.3:p.Ala193Pro
ENST00000535997.6:c.385G>C	ENSP00000442120.2:p.Ala129Pro
ENST00000547687.1:n.362G>C
ENST00000549139.5:n.568G>C
ENST00000549328.1:c.*199G>C	ENSP00000447899.1:n.*199G>C
ENST00000550102.5:c.550G>C	ENSP00000449243.1:p.Ala184Pro
NM_001083314.3:c.557G>C	NP_001076783.1:p.Arg186Pro
NM_002768.4:c.577G>C	NP_002759.2:p.Ala193Pro
NR_046418.2:n.942G>C
XM_011523099.1:c.902G>C	XP_011521401.1:p.Arg301Pro
NM_002768.5:c.577G>C MANE Select	NP_002759.2:p.Ala193Pro
NM_001083314.4:c.557G>C	NP_001076783.1:p.Arg186Pro
NR_046418.3:n.865G>C