Canonical Allele Identifier: CA1261034003

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601384G= , CM000664.2:g.73601384G=	GRCh38
NC_000002.11:g.73828511G= , CM000664.1:g.73828511G=	GRCh37
NC_000002.10:g.73682019G=	NCBI36
NG_011690.1:g.220632G= , LRG_741:g.220632G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11681G=	ENSP00000507671.1:p.Gly3894=
ENST00000682801.1:c.11167-801G=	ENSP00000507862.1:n.11167-801G=
ENST00000682859.1:c.11681G=	ENSP00000508222.1:p.Gly3894=
ENST00000683791.1:c.4767G=
ENST00000684460.1:c.8962G=
ENST00000684548.1:c.11681G=	ENSP00000507421.1:p.Gly3894=
ENST00000684590.1:c.6128G=	ENSP00000507376.1:p.Gly2043=
ENST00000684656.1:c.9146G=
ENST00000613296.6:c.12062G= MANE Select	ENSP00000482968.1:p.Gly4021=
ENST00000651057.1:c.2216G=	ENSP00000498504.1:p.Gly739=
ENST00000651434.1:c.3418G=
ENST00000651750.1:c.1260+503G=
ENST00000652487.1:c.3233G=
ENST00000464408.3:n.237G=
ENST00000484298.5:c.11936G=	ENSP00000478155.1:p.Gly3979=
ENST00000613296.4:c.12062G=	ENSP00000482968.1:p.Gly4021=
ENST00000620466.4:n.5865G=
NM_015120.4:c.12065G= , LRG_741t1:c.12065G=	NP_055935.4:p.Gly4022=
NM_001378454.1:c.12062G= MANE Select	NP_001365383.1:p.Gly4021=