Canonical Allele Identifier: CA347268857

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490394T>A , CM000664.2:g.73490394T>A	GRCh38
NC_000002.11:g.73717521T>A , CM000664.1:g.73717521T>A	GRCh37
NC_000002.10:g.73571029T>A	NCBI36
NG_011690.1:g.109642T>A , LRG_741:g.109642T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8435T>A MANE Select	NP_001365383.1:p.Leu2812Ter
ENST00000613296.6:c.8435T>A MANE Select	ENSP00000482968.1:p.Leu2812Ter
NM_015120.4:c.8438T>A , LRG_741t1:c.8438T>A	NP_055935.4:p.Leu2813Ter
ENST00000423048.5:c.3030+236T>A	ENSP00000399833.1:n.3030+236T>A
ENST00000484298.5:c.8309T>A	ENSP00000478155.1:p.Leu2770Ter
ENST00000613296.4:c.8435T>A	ENSP00000482968.1:p.Leu2812Ter
ENST00000614410.4:c.8435T>A	ENSP00000479094.1:p.Leu2812Ter
ENST00000620466.4:n.2238T>A
ENST00000651434.1:c.896-29381T>A
ENST00000682565.1:c.8054T>A	ENSP00000507671.1:p.Leu2685Ter
ENST00000682801.1:c.8054T>A	ENSP00000507862.1:p.Leu2685Ter
ENST00000682859.1:c.8054T>A	ENSP00000508222.1:p.Leu2685Ter
ENST00000683791.1:c.1446T>A
ENST00000684460.1:c.5506T>A
ENST00000684548.1:c.8054T>A	ENSP00000507421.1:p.Leu2685Ter
ENST00000684590.1:c.2501T>A	ENSP00000507376.1:p.Leu834Ter
ENST00000684656.1:c.5506T>A