Canonical Allele Identifier: CA1261022075

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572875A= , CM000664.2:g.73572875A=	GRCh38
NC_000002.11:g.73800002A= , CM000664.1:g.73800002A=	GRCh37
NC_000002.10:g.73653510A=	NCBI36
NG_011690.1:g.192123A= , LRG_741:g.192123A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10617A=	ENSP00000507671.1:p.Arg3539=
ENST00000682801.1:c.10617A=	ENSP00000507862.1:p.Arg3539=
ENST00000682859.1:c.10617A=	ENSP00000508222.1:p.Arg3539=
ENST00000683791.1:c.3703A=
ENST00000684460.1:c.7898A=
ENST00000684548.1:c.10617A=	ENSP00000507421.1:p.Arg3539=
ENST00000684590.1:c.5064A=	ENSP00000507376.1:p.Arg1688=
ENST00000684656.1:c.7943A=
ENST00000613296.6:c.10998A= MANE Select	ENSP00000482968.1:p.Arg3666=
ENST00000651057.1:c.1152A=	ENSP00000498504.1:p.Arg384=
ENST00000651434.1:c.2354A=
ENST00000651750.1:c.386A=
ENST00000652487.1:c.2095A=
ENST00000423048.5:c.4489A=	ENSP00000399833.1:n.4489A=
ENST00000484298.5:c.10872A=	ENSP00000478155.1:p.Arg3624=
ENST00000613296.4:c.10998A=	ENSP00000482968.1:p.Arg3666=
ENST00000614410.4:c.10998A=	ENSP00000479094.1:p.Arg3666=
ENST00000620466.4:n.4801A=
NM_015120.4:c.11001A= , LRG_741t1:c.11001A=	NP_055935.4:p.Arg3667=
NM_001378454.1:c.10998A= MANE Select	NP_001365383.1:p.Arg3666=