Canonical Allele Identifier: CA1260981925

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490339C= , CM000664.2:g.73490339C=	GRCh38
NC_000002.11:g.73717466C= , CM000664.1:g.73717466C=	GRCh37
NC_000002.10:g.73570974C=	NCBI36
NG_011690.1:g.109587C= , LRG_741:g.109587C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7999C=	ENSP00000507671.1:p.Gln2667=
ENST00000682801.1:c.7999C=	ENSP00000507862.1:p.Gln2667=
ENST00000682859.1:c.7999C=	ENSP00000508222.1:p.Gln2667=
ENST00000683791.1:c.1391C=
ENST00000684460.1:c.5451C=
ENST00000684548.1:c.7999C=	ENSP00000507421.1:p.Gln2667=
ENST00000684590.1:c.2446C=	ENSP00000507376.1:p.Gln816=
ENST00000684656.1:c.5451C=
ENST00000613296.6:c.8380C= MANE Select	ENSP00000482968.1:p.Gln2794=
ENST00000651434.1:c.896-29436C=
ENST00000423048.5:c.3030+181C=	ENSP00000399833.1:n.3030+181C=
ENST00000484298.5:c.8254C=	ENSP00000478155.1:p.Gln2752=
ENST00000613296.4:c.8380C=	ENSP00000482968.1:p.Gln2794=
ENST00000614410.4:c.8380C=	ENSP00000479094.1:p.Gln2794=
ENST00000620466.4:n.2183C=
NM_015120.4:c.8383C= , LRG_741t1:c.8383C=	NP_055935.4:p.Gln2795=
NM_001378454.1:c.8380C= MANE Select	NP_001365383.1:p.Gln2794=