Canonical Allele Identifier: CA347280882

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451834C>A , CM000664.2:g.73451834C>A	GRCh38
NC_000002.11:g.73678961C>A , CM000664.1:g.73678961C>A	GRCh37
NC_000002.10:g.73532469C>A	NCBI36
NG_011690.1:g.71082C>A , LRG_741:g.71082C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5307C>A MANE Select	NP_001365383.1:p.Tyr1769Ter
ENST00000613296.6:c.5307C>A MANE Select	ENSP00000482968.1:p.Tyr1769Ter
NM_015120.4:c.5310C>A , LRG_741t1:c.5310C>A	NP_055935.4:p.Tyr1770Ter
ENST00000423048.5:c.138C>A	ENSP00000399833.1:p.Tyr46Ter
ENST00000484298.5:c.5181C>A	ENSP00000478155.1:p.Tyr1727Ter
ENST00000613296.4:c.5307C>A	ENSP00000482968.1:p.Tyr1769Ter
ENST00000614410.4:c.5307C>A	ENSP00000479094.1:p.Tyr1769Ter
ENST00000682565.1:c.4926C>A	ENSP00000507671.1:p.Tyr1642Ter
ENST00000682801.1:c.4926C>A	ENSP00000507862.1:p.Tyr1642Ter
ENST00000682859.1:c.4926C>A	ENSP00000508222.1:p.Tyr1642Ter
ENST00000683791.1:c.685+19543C>A
ENST00000684197.1:n.276C>A
ENST00000684460.1:c.2378C>A
ENST00000684548.1:c.4926C>A	ENSP00000507421.1:p.Tyr1642Ter
ENST00000684656.1:c.2378C>A