Canonical Allele Identifier: CA1261033945

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601361T= , CM000664.2:g.73601361T=	GRCh38
NC_000002.11:g.73828488T= , CM000664.1:g.73828488T=	GRCh37
NC_000002.10:g.73681996T=	NCBI36
NG_011690.1:g.220609T= , LRG_741:g.220609T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11658T=	ENSP00000507671.1:p.Gly3886=
ENST00000682801.1:c.11167-824T=	ENSP00000507862.1:n.11167-824T=
ENST00000682859.1:c.11658T=	ENSP00000508222.1:p.Gly3886=
ENST00000683791.1:c.4744T=
ENST00000684460.1:c.8939T=
ENST00000684548.1:c.11658T=	ENSP00000507421.1:p.Gly3886=
ENST00000684590.1:c.6105T=	ENSP00000507376.1:p.Gly2035=
ENST00000684656.1:c.9123T=
ENST00000613296.6:c.12039T= MANE Select	ENSP00000482968.1:p.Gly4013=
ENST00000651057.1:c.2193T=	ENSP00000498504.1:p.Gly731=
ENST00000651434.1:c.3395T=
ENST00000651750.1:c.1260+480T=
ENST00000652487.1:c.3210T=
ENST00000464408.3:n.214T=
ENST00000484298.5:c.11913T=	ENSP00000478155.1:p.Gly3971=
ENST00000613296.4:c.12039T=	ENSP00000482968.1:p.Gly4013=
ENST00000620466.4:n.5842T=
NM_015120.4:c.12042T= , LRG_741t1:c.12042T=	NP_055935.4:p.Gly4014=
NM_001378454.1:c.12039T= MANE Select	NP_001365383.1:p.Gly4013=