Canonical Allele Identifier: CA1261033922

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601353C= , CM000664.2:g.73601353C=	GRCh38
NC_000002.11:g.73828480C= , CM000664.1:g.73828480C=	GRCh37
NC_000002.10:g.73681988C=	NCBI36
NG_011690.1:g.220601C= , LRG_741:g.220601C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11650C=	ENSP00000507671.1:p.Leu3884=
ENST00000682801.1:c.11167-832C=	ENSP00000507862.1:n.11167-832C=
ENST00000682859.1:c.11650C=	ENSP00000508222.1:p.Leu3884=
ENST00000683791.1:c.4736C=
ENST00000684460.1:c.8931C=
ENST00000684548.1:c.11650C=	ENSP00000507421.1:p.Leu3884=
ENST00000684590.1:c.6097C=	ENSP00000507376.1:p.Leu2033=
ENST00000684656.1:c.9115C=
ENST00000613296.6:c.12031C= MANE Select	ENSP00000482968.1:p.Leu4011=
ENST00000651057.1:c.2185C=	ENSP00000498504.1:p.Leu729=
ENST00000651434.1:c.3387C=
ENST00000651750.1:c.1260+472C=
ENST00000652487.1:c.3202C=
ENST00000464408.3:n.206C=
ENST00000484298.5:c.11905C=	ENSP00000478155.1:p.Leu3969=
ENST00000613296.4:c.12031C=	ENSP00000482968.1:p.Leu4011=
ENST00000620466.4:n.5834C=
NM_015120.4:c.12034C= , LRG_741t1:c.12034C=	NP_055935.4:p.Leu4012=
NM_001378454.1:c.12031C= MANE Select	NP_001365383.1:p.Leu4011=