Canonical Allele Identifier: CA1260981171

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489813C= , CM000664.2:g.73489813C=	GRCh38
NC_000002.11:g.73716940C= , CM000664.1:g.73716940C=	GRCh37
NC_000002.10:g.73570448C=	NCBI36
NG_011690.1:g.109061C= , LRG_741:g.109061C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7473C=	ENSP00000507671.1:p.Asn2491=
ENST00000682801.1:c.7473C=	ENSP00000507862.1:p.Asn2491=
ENST00000682859.1:c.7473C=	ENSP00000508222.1:p.Asn2491=
ENST00000683791.1:c.865C=
ENST00000684460.1:c.4925C=
ENST00000684548.1:c.7473C=	ENSP00000507421.1:p.Asn2491=
ENST00000684590.1:c.1920C=	ENSP00000507376.1:p.Asn640=
ENST00000684656.1:c.4925C=
ENST00000613296.6:c.7854C= MANE Select	ENSP00000482968.1:p.Asn2618=
ENST00000651434.1:c.896-29962C=
ENST00000423048.5:c.2685C=	ENSP00000399833.1:p.Asn895=
ENST00000484298.5:c.7728C=	ENSP00000478155.1:p.Asn2576=
ENST00000613296.4:c.7854C=	ENSP00000482968.1:p.Asn2618=
ENST00000614410.4:c.7854C=	ENSP00000479094.1:p.Asn2618=
ENST00000620466.4:n.1657C=
NM_015120.4:c.7857C= , LRG_741t1:c.7857C=	NP_055935.4:p.Asn2619=
NM_001378454.1:c.7854C= MANE Select	NP_001365383.1:p.Asn2618=