Canonical Allele Identifier: CA1712885

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73419240C>A , CM000664.2:g.73419240C>A	GRCh38
NC_000002.11:g.73646368C>A , CM000664.1:g.73646368C>A	GRCh37
NC_000002.10:g.73499876C>A	NCBI36
NG_011690.1:g.38486C>A , LRG_741:g.38486C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.568C>A MANE Select	NP_001365383.1:p.Leu190Met
ENST00000613296.6:c.568C>A MANE Select	ENSP00000482968.1:p.Leu190Met
NM_015120.4:c.571C>A , LRG_741t1:c.571C>A	NP_055935.4:p.Leu191Met
ENST00000484298.5:c.442C>A	ENSP00000478155.1:p.Leu148Met
ENST00000613296.4:c.568C>A	ENSP00000482968.1:p.Leu190Met
ENST00000614410.4:c.568C>A	ENSP00000479094.1:p.Leu190Met
ENST00000682565.1:c.118C>A	ENSP00000507671.1:p.Leu40Met
ENST00000682675.1:n.528C>A
ENST00000682801.1:c.118C>A	ENSP00000507862.1:p.Leu40Met
ENST00000682859.1:c.118C>A	ENSP00000508222.1:p.Leu40Met
ENST00000682889.1:n.533C>A
ENST00000684148.1:n.314C>A
ENST00000684548.1:c.118C>A	ENSP00000507421.1:p.Leu40Met