Canonical Allele Identifier: CA1261021237

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572498G= , CM000664.2:g.73572498G=	GRCh38
NC_000002.11:g.73799625G= , CM000664.1:g.73799625G=	GRCh37
NC_000002.10:g.73653133G=	NCBI36
NG_011690.1:g.191746G= , LRG_741:g.191746G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10240G=	ENSP00000507671.1:p.Asp3414=
ENST00000682801.1:c.10240G=	ENSP00000507862.1:p.Asp3414=
ENST00000682859.1:c.10240G=	ENSP00000508222.1:p.Asp3414=
ENST00000683791.1:c.3326G=
ENST00000684460.1:c.7521G=
ENST00000684548.1:c.10240G=	ENSP00000507421.1:p.Asp3414=
ENST00000684590.1:c.4687G=	ENSP00000507376.1:p.Asp1563=
ENST00000684656.1:c.7566G=
ENST00000613296.6:c.10621G= MANE Select	ENSP00000482968.1:p.Asp3541=
ENST00000651057.1:c.775G=	ENSP00000498504.1:p.Asp259=
ENST00000651434.1:c.1977G=
ENST00000651750.1:c.9G=
ENST00000652487.1:c.1718G=
ENST00000423048.5:c.4112G=	ENSP00000399833.1:n.4112G=
ENST00000484298.5:c.10495G=	ENSP00000478155.1:p.Asp3499=
ENST00000613296.4:c.10621G=	ENSP00000482968.1:p.Asp3541=
ENST00000614410.4:c.10621G=	ENSP00000479094.1:p.Asp3541=
ENST00000620466.4:n.4424G=
NM_015120.4:c.10624G= , LRG_741t1:c.10624G=	NP_055935.4:p.Asp3542=
NM_001378454.1:c.10621G= MANE Select	NP_001365383.1:p.Asp3541=