Canonical Allele Identifier: CA1713898

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452065G>T , CM000664.2:g.73452065G>T	GRCh38
NC_000002.11:g.73679192G>T , CM000664.1:g.73679192G>T	GRCh37
NC_000002.10:g.73532700G>T	NCBI36
NG_011690.1:g.71313G>T , LRG_741:g.71313G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5538G>T MANE Select	NP_001365383.1:p.Leu1846=
ENST00000613296.6:c.5538G>T MANE Select	ENSP00000482968.1:p.Leu1846=
NM_015120.4:c.5541G>T , LRG_741t1:c.5541G>T	NP_055935.4:p.Leu1847=
ENST00000423048.5:c.369G>T	ENSP00000399833.1:p.Leu123=
ENST00000484298.5:c.5412G>T	ENSP00000478155.1:p.Leu1804=
ENST00000613296.4:c.5538G>T	ENSP00000482968.1:p.Leu1846=
ENST00000614410.4:c.5538G>T	ENSP00000479094.1:p.Leu1846=
ENST00000682565.1:c.5157G>T	ENSP00000507671.1:p.Leu1719=
ENST00000682801.1:c.5157G>T	ENSP00000507862.1:p.Leu1719=
ENST00000682859.1:c.5157G>T	ENSP00000508222.1:p.Leu1719=
ENST00000683791.1:c.685+19774G>T
ENST00000684197.1:n.507G>T
ENST00000684460.1:c.2609G>T
ENST00000684548.1:c.5157G>T	ENSP00000507421.1:p.Leu1719=
ENST00000684656.1:c.2609G>T