Canonical Allele Identifier: CA1260981696

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490211A= , CM000664.2:g.73490211A=	GRCh38
NC_000002.11:g.73717338A= , CM000664.1:g.73717338A=	GRCh37
NC_000002.10:g.73570846A=	NCBI36
NG_011690.1:g.109459A= , LRG_741:g.109459A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7871A=	ENSP00000507671.1:p.Asn2624=
ENST00000682801.1:c.7871A=	ENSP00000507862.1:p.Asn2624=
ENST00000682859.1:c.7871A=	ENSP00000508222.1:p.Asn2624=
ENST00000683791.1:c.1263A=
ENST00000684460.1:c.5323A=
ENST00000684548.1:c.7871A=	ENSP00000507421.1:p.Asn2624=
ENST00000684590.1:c.2318A=	ENSP00000507376.1:p.Asn773=
ENST00000684656.1:c.5323A=
ENST00000613296.6:c.8252A= MANE Select	ENSP00000482968.1:p.Asn2751=
ENST00000651434.1:c.896-29564A=
ENST00000423048.5:c.3030+53A=	ENSP00000399833.1:n.3030+53A=
ENST00000484298.5:c.8126A=	ENSP00000478155.1:p.Asn2709=
ENST00000613296.4:c.8252A=	ENSP00000482968.1:p.Asn2751=
ENST00000614410.4:c.8252A=	ENSP00000479094.1:p.Asn2751=
ENST00000620466.4:n.2055A=
NM_015120.4:c.8255A= , LRG_741t1:c.8255A=	NP_055935.4:p.Asn2752=
NM_001378454.1:c.8252A= MANE Select	NP_001365383.1:p.Asn2751=