Canonical Allele Identifier: CA1260958960

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450202T= , CM000664.2:g.73450202T=	GRCh38
NC_000002.11:g.73677329T= , CM000664.1:g.73677329T=	GRCh37
NC_000002.10:g.73530837T=	NCBI36
NG_011690.1:g.69450T= , LRG_741:g.69450T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3294T=	ENSP00000507671.1:p.Ala1098=
ENST00000682801.1:c.3294T=	ENSP00000507862.1:p.Ala1098=
ENST00000682859.1:c.3294T=	ENSP00000508222.1:p.Ala1098=
ENST00000683791.1:c.685+17911T=
ENST00000684460.1:c.746T=
ENST00000684548.1:c.3294T=	ENSP00000507421.1:p.Ala1098=
ENST00000684656.1:c.746T=
ENST00000613296.6:c.3675T= MANE Select	ENSP00000482968.1:p.Ala1225=
ENST00000484298.5:c.3549T=	ENSP00000478155.1:p.Ala1183=
ENST00000613296.4:c.3675T=	ENSP00000482968.1:p.Ala1225=
ENST00000614410.4:c.3675T=	ENSP00000479094.1:p.Ala1225=
NM_015120.4:c.3678T= , LRG_741t1:c.3678T=	NP_055935.4:p.Ala1226=
NM_001378454.1:c.3675T= MANE Select	NP_001365383.1:p.Ala1225=