Canonical Allele Identifier: CA1260981246

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489990C= , CM000664.2:g.73489990C=	GRCh38
NC_000002.11:g.73717117C= , CM000664.1:g.73717117C=	GRCh37
NC_000002.10:g.73570625C=	NCBI36
NG_011690.1:g.109238C= , LRG_741:g.109238C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7650C=	ENSP00000507671.1:p.Asp2550=
ENST00000682801.1:c.7650C=	ENSP00000507862.1:p.Asp2550=
ENST00000682859.1:c.7650C=	ENSP00000508222.1:p.Asp2550=
ENST00000683791.1:c.1042C=
ENST00000684460.1:c.5102C=
ENST00000684548.1:c.7650C=	ENSP00000507421.1:p.Asp2550=
ENST00000684590.1:c.2097C=	ENSP00000507376.1:p.Asp699=
ENST00000684656.1:c.5102C=
ENST00000613296.6:c.8031C= MANE Select	ENSP00000482968.1:p.Asp2677=
ENST00000651434.1:c.896-29785C=
ENST00000423048.5:c.2862C=	ENSP00000399833.1:p.Asp954=
ENST00000484298.5:c.7905C=	ENSP00000478155.1:p.Asp2635=
ENST00000613296.4:c.8031C=	ENSP00000482968.1:p.Asp2677=
ENST00000614410.4:c.8031C=	ENSP00000479094.1:p.Asp2677=
ENST00000620466.4:n.1834C=
NM_015120.4:c.8034C= , LRG_741t1:c.8034C=	NP_055935.4:p.Asp2678=
NM_001378454.1:c.8031C= MANE Select	NP_001365383.1:p.Asp2677=