Canonical Allele Identifier: CA347291775

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453761A>T , CM000664.2:g.73453761A>T	GRCh38
NC_000002.11:g.73680888A>T , CM000664.1:g.73680888A>T	GRCh37
NC_000002.10:g.73534396A>T	NCBI36
NG_011690.1:g.73009A>T , LRG_741:g.73009A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7234A>T MANE Select	NP_001365383.1:p.Lys2412Ter
ENST00000613296.6:c.7234A>T MANE Select	ENSP00000482968.1:p.Lys2412Ter
NM_015120.4:c.7237A>T , LRG_741t1:c.7237A>T	NP_055935.4:p.Lys2413Ter
ENST00000423048.5:c.2065A>T	ENSP00000399833.1:p.Lys689Ter
ENST00000484298.5:c.7108A>T	ENSP00000478155.1:p.Lys2370Ter
ENST00000613296.4:c.7234A>T	ENSP00000482968.1:p.Lys2412Ter
ENST00000614410.4:c.7234A>T	ENSP00000479094.1:p.Lys2412Ter
ENST00000620466.4:n.1037A>T
ENST00000651434.1:c.455A>T
ENST00000682565.1:c.6853A>T	ENSP00000507671.1:p.Lys2285Ter
ENST00000682801.1:c.6853A>T	ENSP00000507862.1:p.Lys2285Ter
ENST00000682859.1:c.6853A>T	ENSP00000508222.1:p.Lys2285Ter
ENST00000683791.1:c.685+21470A>T
ENST00000684197.1:n.2203A>T
ENST00000684460.1:c.4305A>T
ENST00000684548.1:c.6853A>T	ENSP00000507421.1:p.Lys2285Ter
ENST00000684590.1:c.1351A>T	ENSP00000507376.1:p.Lys451Ter
ENST00000684656.1:c.4305A>T