Canonical Allele Identifier: CA1260981163

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489799A= , CM000664.2:g.73489799A=	GRCh38
NC_000002.11:g.73716926A= , CM000664.1:g.73716926A=	GRCh37
NC_000002.10:g.73570434A=	NCBI36
NG_011690.1:g.109047A= , LRG_741:g.109047A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7459A=	ENSP00000507671.1:p.Arg2487=
ENST00000682801.1:c.7459A=	ENSP00000507862.1:p.Arg2487=
ENST00000682859.1:c.7459A=	ENSP00000508222.1:p.Arg2487=
ENST00000683791.1:c.851A=
ENST00000684460.1:c.4911A=
ENST00000684548.1:c.7459A=	ENSP00000507421.1:p.Arg2487=
ENST00000684590.1:c.1906A=	ENSP00000507376.1:p.Arg636=
ENST00000684656.1:c.4911A=
ENST00000613296.6:c.7840A= MANE Select	ENSP00000482968.1:p.Arg2614=
ENST00000651434.1:c.896-29976A=
ENST00000423048.5:c.2671A=	ENSP00000399833.1:p.Arg891=
ENST00000484298.5:c.7714A=	ENSP00000478155.1:p.Arg2572=
ENST00000613296.4:c.7840A=	ENSP00000482968.1:p.Arg2614=
ENST00000614410.4:c.7840A=	ENSP00000479094.1:p.Arg2614=
ENST00000620466.4:n.1643A=
NM_015120.4:c.7843A= , LRG_741t1:c.7843A=	NP_055935.4:p.Arg2615=
NM_001378454.1:c.7840A= MANE Select	NP_001365383.1:p.Arg2614=