Canonical Allele Identifier: CA1713955

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452432C>G , CM000664.2:g.73452432C>G	GRCh38
NC_000002.11:g.73679559C>G , CM000664.1:g.73679559C>G	GRCh37
NC_000002.10:g.73533067C>G	NCBI36
NG_011690.1:g.71680C>G , LRG_741:g.71680C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5905C>G MANE Select	NP_001365383.1:p.Pro1969Ala
ENST00000613296.6:c.5905C>G MANE Select	ENSP00000482968.1:p.Pro1969Ala
NM_015120.4:c.5908C>G , LRG_741t1:c.5908C>G	NP_055935.4:p.Pro1970Ala
ENST00000423048.5:c.736C>G	ENSP00000399833.1:p.Pro246Ala
ENST00000484298.5:c.5779C>G	ENSP00000478155.1:p.Pro1927Ala
ENST00000613296.4:c.5905C>G	ENSP00000482968.1:p.Pro1969Ala
ENST00000614410.4:c.5905C>G	ENSP00000479094.1:p.Pro1969Ala
ENST00000682565.1:c.5524C>G	ENSP00000507671.1:p.Pro1842Ala
ENST00000682801.1:c.5524C>G	ENSP00000507862.1:p.Pro1842Ala
ENST00000682859.1:c.5524C>G	ENSP00000508222.1:p.Pro1842Ala
ENST00000683791.1:c.685+20141C>G
ENST00000684197.1:n.874C>G
ENST00000684460.1:c.2976C>G
ENST00000684548.1:c.5524C>G	ENSP00000507421.1:p.Pro1842Ala
ENST00000684590.1:c.22C>G	ENSP00000507376.1:p.Pro8Ala
ENST00000684656.1:c.2976C>G