Canonical Allele Identifier: CA1261033742

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601259C= , CM000664.2:g.73601259C=	GRCh38
NC_000002.11:g.73828386C= , CM000664.1:g.73828386C=	GRCh37
NC_000002.10:g.73681894C=	NCBI36
NG_011690.1:g.220507C= , LRG_741:g.220507C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11556C=	ENSP00000507671.1:p.Asn3852=
ENST00000682801.1:c.11167-926C=	ENSP00000507862.1:n.11167-926C=
ENST00000682859.1:c.11556C=	ENSP00000508222.1:p.Asn3852=
ENST00000683791.1:c.4642C=
ENST00000684460.1:c.8837C=
ENST00000684548.1:c.11556C=	ENSP00000507421.1:p.Asn3852=
ENST00000684590.1:c.6003C=	ENSP00000507376.1:p.Asn2001=
ENST00000684656.1:c.9021C=
ENST00000613296.6:c.11937C= MANE Select	ENSP00000482968.1:p.Asn3979=
ENST00000651057.1:c.2091C=	ENSP00000498504.1:p.Asn697=
ENST00000651434.1:c.3293C=
ENST00000651750.1:c.1260+378C=
ENST00000652487.1:c.3108C=
ENST00000464408.3:n.112C=
ENST00000484298.5:c.11811C=	ENSP00000478155.1:p.Asn3937=
ENST00000613296.4:c.11937C=	ENSP00000482968.1:p.Asn3979=
ENST00000620466.4:n.5740C=
NM_015120.4:c.11940C= , LRG_741t1:c.11940C=	NP_055935.4:p.Asn3980=
NM_001378454.1:c.11937C= MANE Select	NP_001365383.1:p.Asn3979=