Canonical Allele Identifier: CA1260981332

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490040T= , CM000664.2:g.73490040T=	GRCh38
NC_000002.11:g.73717167T= , CM000664.1:g.73717167T=	GRCh37
NC_000002.10:g.73570675T=	NCBI36
NG_011690.1:g.109288T= , LRG_741:g.109288T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7700T=	ENSP00000507671.1:p.Val2567=
ENST00000682801.1:c.7700T=	ENSP00000507862.1:p.Val2567=
ENST00000682859.1:c.7700T=	ENSP00000508222.1:p.Val2567=
ENST00000683791.1:c.1092T=
ENST00000684460.1:c.5152T=
ENST00000684548.1:c.7700T=	ENSP00000507421.1:p.Val2567=
ENST00000684590.1:c.2147T=	ENSP00000507376.1:p.Val716=
ENST00000684656.1:c.5152T=
ENST00000613296.6:c.8081T= MANE Select	ENSP00000482968.1:p.Val2694=
ENST00000651434.1:c.896-29735T=
ENST00000423048.5:c.2912T=	ENSP00000399833.1:p.Val971=
ENST00000484298.5:c.7955T=	ENSP00000478155.1:p.Val2652=
ENST00000613296.4:c.8081T=	ENSP00000482968.1:p.Val2694=
ENST00000614410.4:c.8081T=	ENSP00000479094.1:p.Val2694=
ENST00000620466.4:n.1884T=
NM_015120.4:c.8084T= , LRG_741t1:c.8084T=	NP_055935.4:p.Val2695=
NM_001378454.1:c.8081T= MANE Select	NP_001365383.1:p.Val2694=