Canonical Allele Identifier: CA1697922609
Community Standard Title: NM_198098.4(AQP1):c.*578G=
Gene: AQP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30924207G= , CM000669.2:g.30924207G= GRCh38
NC_000007.13:g.30963822G= , CM000669.1:g.30963822G= GRCh37
NC_000007.12:g.30930347G= NCBI36
NG_007475.2:g.75814G=

Transcript Alleles

HGVS Amino-acid Change
NM_198098.4:c.*578G= MANE Select NP_932766.1:n.*578G=
ENST00000311813.11:c.*578G= MANE Select ENSP00000311165.4:n.*578G=
NM_001185060.1:c.*578G= NP_001171989.1:n.*578G=
NM_001185061.1:c.*578G= NP_001171990.1:n.*578G=
NM_001185062.1:c.*578G= NP_001171991.1:n.*578G=
NM_001329872.1:c.*198G= NP_001316801.1:n.*198G=
NM_001329872.2:c.*198G= NP_001316801.1:n.*198G=
NM_198098.2:c.*578G= NP_932766.1:n.*578G=
NM_198098.3:c.*578G= NP_932766.1:n.*578G=
ENST00000311813.8:c.*578G= ENSP00000311165.4:n.*578G=
ENST00000441328.6:c.*578G= ENSP00000405698.2:n.*578G=
ENST00000441328.7:n.522G=
ENST00000652692.1:c.622+554G=
ENST00000652696.1:c.*405G= ENSP00000498672.1:n.*405G=