Canonical Allele Identifier: CA347274691

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608503A>T , CM000664.2:g.73608503A>T	GRCh38
NC_000002.11:g.73835630A>T , CM000664.1:g.73835630A>T	GRCh37
NC_000002.10:g.73689138A>T	NCBI36
NG_011690.1:g.227751A>T , LRG_741:g.227751A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12391A>T MANE Select	NP_001365383.1:p.Lys4131Ter
ENST00000613296.6:c.12391A>T MANE Select	ENSP00000482968.1:p.Lys4131Ter
NM_015120.4:c.12394A>T , LRG_741t1:c.12394A>T	NP_055935.4:p.Lys4132Ter
ENST00000464408.3:n.627A>T
ENST00000484298.5:c.12265A>T	ENSP00000478155.1:p.Lys4089Ter
ENST00000490821.1:n.35A>T
ENST00000613296.4:c.12391A>T	ENSP00000482968.1:p.Lys4131Ter
ENST00000651057.1:c.2545A>T	ENSP00000498504.1:p.Lys849Ter
ENST00000651434.1:c.3747A>T
ENST00000651750.1:c.1537A>T
ENST00000652487.1:c.3562A>T
ENST00000682565.1:c.12088A>T	ENSP00000507671.1:n.12088A>T
ENST00000682801.1:c.11443A>T	ENSP00000507862.1:p.Lys3815Ter
ENST00000682859.1:c.12010A>T	ENSP00000508222.1:p.Lys4004Ter
ENST00000683108.1:n.133A>T
ENST00000683147.1:n.3470A>T
ENST00000683791.1:c.5096A>T
ENST00000684460.1:c.9291A>T
ENST00000684548.1:c.12010A>T	ENSP00000507421.1:p.Lys4004Ter
ENST00000684590.1:c.6457A>T	ENSP00000507376.1:p.Lys2153Ter
ENST00000684656.1:c.9475A>T