Canonical Allele Identifier: CA1260981221

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489928T= , CM000664.2:g.73489928T=	GRCh38
NC_000002.11:g.73717055T= , CM000664.1:g.73717055T=	GRCh37
NC_000002.10:g.73570563T=	NCBI36
NG_011690.1:g.109176T= , LRG_741:g.109176T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7588T=	ENSP00000507671.1:p.Phe2530=
ENST00000682801.1:c.7588T=	ENSP00000507862.1:p.Phe2530=
ENST00000682859.1:c.7588T=	ENSP00000508222.1:p.Phe2530=
ENST00000683791.1:c.980T=
ENST00000684460.1:c.5040T=
ENST00000684548.1:c.7588T=	ENSP00000507421.1:p.Phe2530=
ENST00000684590.1:c.2035T=	ENSP00000507376.1:p.Phe679=
ENST00000684656.1:c.5040T=
ENST00000613296.6:c.7969T= MANE Select	ENSP00000482968.1:p.Phe2657=
ENST00000651434.1:c.896-29847T=
ENST00000423048.5:c.2800T=	ENSP00000399833.1:p.Phe934=
ENST00000484298.5:c.7843T=	ENSP00000478155.1:p.Phe2615=
ENST00000613296.4:c.7969T=	ENSP00000482968.1:p.Phe2657=
ENST00000614410.4:c.7969T=	ENSP00000479094.1:p.Phe2657=
ENST00000620466.4:n.1772T=
NM_015120.4:c.7972T= , LRG_741t1:c.7972T=	NP_055935.4:p.Phe2658=
NM_001378454.1:c.7969T= MANE Select	NP_001365383.1:p.Phe2657=