Canonical Allele Identifier: CA1714563

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490849A>G , CM000664.2:g.73490849A>G	GRCh38
NC_000002.11:g.73717976A>G , CM000664.1:g.73717976A>G	GRCh37
NC_000002.10:g.73571484A>G	NCBI36
NG_011690.1:g.110097A>G , LRG_741:g.110097A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.8509A>G	ENSP00000507671.1:p.Ile2837Val
ENST00000682801.1:c.8509A>G	ENSP00000507862.1:p.Ile2837Val
ENST00000682859.1:c.8509A>G	ENSP00000508222.1:p.Ile2837Val
ENST00000683791.1:c.1901A>G
ENST00000684460.1:c.5961A>G
ENST00000684548.1:c.8509A>G	ENSP00000507421.1:p.Ile2837Val
ENST00000684590.1:c.2956A>G	ENSP00000507376.1:p.Ile986Val
ENST00000684656.1:c.5961A>G
ENST00000613296.6:c.8890A>G MANE Select	ENSP00000482968.1:p.Ile2964Val
ENST00000651434.1:c.896-28926A>G
ENST00000423048.5:c.3030+691A>G	ENSP00000399833.1:n.3030+691A>G
ENST00000484298.5:c.8764A>G	ENSP00000478155.1:p.Ile2922Val
ENST00000613296.4:c.8890A>G	ENSP00000482968.1:p.Ile2964Val
ENST00000614410.4:c.8890A>G	ENSP00000479094.1:p.Ile2964Val
ENST00000620466.4:n.2693A>G
NM_015120.4:c.8893A>G , LRG_741t1:c.8893A>G	NP_055935.4:p.Ile2965Val
NM_001378454.1:c.8890A>G MANE Select	NP_001365383.1:p.Ile2964Val