Canonical Allele Identifier: CA1260981659

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490198G= , CM000664.2:g.73490198G=	GRCh38
NC_000002.11:g.73717325G= , CM000664.1:g.73717325G=	GRCh37
NC_000002.10:g.73570833G=	NCBI36
NG_011690.1:g.109446G= , LRG_741:g.109446G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7858G=	ENSP00000507671.1:p.Val2620=
ENST00000682801.1:c.7858G=	ENSP00000507862.1:p.Val2620=
ENST00000682859.1:c.7858G=	ENSP00000508222.1:p.Val2620=
ENST00000683791.1:c.1250G=
ENST00000684460.1:c.5310G=
ENST00000684548.1:c.7858G=	ENSP00000507421.1:p.Val2620=
ENST00000684590.1:c.2305G=	ENSP00000507376.1:p.Val769=
ENST00000684656.1:c.5310G=
ENST00000613296.6:c.8239G= MANE Select	ENSP00000482968.1:p.Val2747=
ENST00000651434.1:c.896-29577G=
ENST00000423048.5:c.3030+40G=	ENSP00000399833.1:n.3030+40G=
ENST00000484298.5:c.8113G=	ENSP00000478155.1:p.Val2705=
ENST00000613296.4:c.8239G=	ENSP00000482968.1:p.Val2747=
ENST00000614410.4:c.8239G=	ENSP00000479094.1:p.Val2747=
ENST00000620466.4:n.2042G=
NM_015120.4:c.8242G= , LRG_741t1:c.8242G=	NP_055935.4:p.Val2748=
NM_001378454.1:c.8239G= MANE Select	NP_001365383.1:p.Val2747=