Canonical Allele Identifier: CA1260981452

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490090T= , CM000664.2:g.73490090T=	GRCh38
NC_000002.11:g.73717217T= , CM000664.1:g.73717217T=	GRCh37
NC_000002.10:g.73570725T=	NCBI36
NG_011690.1:g.109338T= , LRG_741:g.109338T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7750T=	ENSP00000507671.1:p.Phe2584=
ENST00000682801.1:c.7750T=	ENSP00000507862.1:p.Phe2584=
ENST00000682859.1:c.7750T=	ENSP00000508222.1:p.Phe2584=
ENST00000683791.1:c.1142T=
ENST00000684460.1:c.5202T=
ENST00000684548.1:c.7750T=	ENSP00000507421.1:p.Phe2584=
ENST00000684590.1:c.2197T=	ENSP00000507376.1:p.Phe733=
ENST00000684656.1:c.5202T=
ENST00000613296.6:c.8131T= MANE Select	ENSP00000482968.1:p.Phe2711=
ENST00000651434.1:c.896-29685T=
ENST00000423048.5:c.2962T=	ENSP00000399833.1:p.Phe988=
ENST00000484298.5:c.8005T=	ENSP00000478155.1:p.Phe2669=
ENST00000613296.4:c.8131T=	ENSP00000482968.1:p.Phe2711=
ENST00000614410.4:c.8131T=	ENSP00000479094.1:p.Phe2711=
ENST00000620466.4:n.1934T=
NM_015120.4:c.8134T= , LRG_741t1:c.8134T=	NP_055935.4:p.Phe2712=
NM_001378454.1:c.8131T= MANE Select	NP_001365383.1:p.Phe2711=