Canonical Allele Identifier: CA1260981141

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489751G= , CM000664.2:g.73489751G=	GRCh38
NC_000002.11:g.73716878G= , CM000664.1:g.73716878G=	GRCh37
NC_000002.10:g.73570386G=	NCBI36
NG_011690.1:g.108999G= , LRG_741:g.108999G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7411G=	ENSP00000507671.1:p.Asp2471=
ENST00000682801.1:c.7411G=	ENSP00000507862.1:p.Asp2471=
ENST00000682859.1:c.7411G=	ENSP00000508222.1:p.Asp2471=
ENST00000683791.1:c.803G=
ENST00000684460.1:c.4863G=
ENST00000684548.1:c.7411G=	ENSP00000507421.1:p.Asp2471=
ENST00000684590.1:c.1858G=	ENSP00000507376.1:p.Asp620=
ENST00000684656.1:c.4863G=
ENST00000613296.6:c.7792G= MANE Select	ENSP00000482968.1:p.Asp2598=
ENST00000651434.1:c.896-30024G=
ENST00000423048.5:c.2623G=	ENSP00000399833.1:p.Asp875=
ENST00000484298.5:c.7666G=	ENSP00000478155.1:p.Asp2556=
ENST00000613296.4:c.7792G=	ENSP00000482968.1:p.Asp2598=
ENST00000614410.4:c.7792G=	ENSP00000479094.1:p.Asp2598=
ENST00000620466.4:n.1595G=
NM_015120.4:c.7795G= , LRG_741t1:c.7795G=	NP_055935.4:p.Asp2599=
NM_001378454.1:c.7792G= MANE Select	NP_001365383.1:p.Asp2598=