Canonical Allele Identifier: CA1260981078

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489637T= , CM000664.2:g.73489637T=	GRCh38
NC_000002.11:g.73716764T= , CM000664.1:g.73716764T=	GRCh37
NC_000002.10:g.73570272T=	NCBI36
NG_011690.1:g.108885T= , LRG_741:g.108885T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7297T=	ENSP00000507671.1:p.Leu2433=
ENST00000682801.1:c.7297T=	ENSP00000507862.1:p.Leu2433=
ENST00000682859.1:c.7297T=	ENSP00000508222.1:p.Leu2433=
ENST00000683791.1:c.689T=
ENST00000684460.1:c.4749T=
ENST00000684548.1:c.7297T=	ENSP00000507421.1:p.Leu2433=
ENST00000684590.1:c.1744T=	ENSP00000507376.1:p.Leu582=
ENST00000684656.1:c.4749T=
ENST00000613296.6:c.7678T= MANE Select	ENSP00000482968.1:p.Leu2560=
ENST00000651434.1:c.896-30138T=
ENST00000423048.5:c.2509T=	ENSP00000399833.1:p.Leu837=
ENST00000484298.5:c.7552T=	ENSP00000478155.1:p.Leu2518=
ENST00000613296.4:c.7678T=	ENSP00000482968.1:p.Leu2560=
ENST00000614410.4:c.7678T=	ENSP00000479094.1:p.Leu2560=
ENST00000620466.4:n.1481T=
NM_015120.4:c.7681T= , LRG_741t1:c.7681T=	NP_055935.4:p.Leu2561=
NM_001378454.1:c.7678T= MANE Select	NP_001365383.1:p.Leu2560=