Canonical Allele Identifier: CA1260981275

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490008A= , CM000664.2:g.73490008A=	GRCh38
NC_000002.11:g.73717135A= , CM000664.1:g.73717135A=	GRCh37
NC_000002.10:g.73570643A=	NCBI36
NG_011690.1:g.109256A= , LRG_741:g.109256A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7668A=	ENSP00000507671.1:p.Leu2556=
ENST00000682801.1:c.7668A=	ENSP00000507862.1:p.Leu2556=
ENST00000682859.1:c.7668A=	ENSP00000508222.1:p.Leu2556=
ENST00000683791.1:c.1060A=
ENST00000684460.1:c.5120A=
ENST00000684548.1:c.7668A=	ENSP00000507421.1:p.Leu2556=
ENST00000684590.1:c.2115A=	ENSP00000507376.1:p.Leu705=
ENST00000684656.1:c.5120A=
ENST00000613296.6:c.8049A= MANE Select	ENSP00000482968.1:p.Leu2683=
ENST00000651434.1:c.896-29767A=
ENST00000423048.5:c.2880A=	ENSP00000399833.1:p.Leu960=
ENST00000484298.5:c.7923A=	ENSP00000478155.1:p.Leu2641=
ENST00000613296.4:c.8049A=	ENSP00000482968.1:p.Leu2683=
ENST00000614410.4:c.8049A=	ENSP00000479094.1:p.Leu2683=
ENST00000620466.4:n.1852A=
NM_015120.4:c.8052A= , LRG_741t1:c.8052A=	NP_055935.4:p.Leu2684=
NM_001378454.1:c.8049A= MANE Select	NP_001365383.1:p.Leu2683=