Canonical Allele Identifier: CA1261033996

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601376A= , CM000664.2:g.73601376A=	GRCh38
NC_000002.11:g.73828503A= , CM000664.1:g.73828503A=	GRCh37
NC_000002.10:g.73682011A=	NCBI36
NG_011690.1:g.220624A= , LRG_741:g.220624A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11673A=	ENSP00000507671.1:p.Ala3891=
ENST00000682801.1:c.11167-809A=	ENSP00000507862.1:n.11167-809A=
ENST00000682859.1:c.11673A=	ENSP00000508222.1:p.Ala3891=
ENST00000683791.1:c.4759A=
ENST00000684460.1:c.8954A=
ENST00000684548.1:c.11673A=	ENSP00000507421.1:p.Ala3891=
ENST00000684590.1:c.6120A=	ENSP00000507376.1:p.Ala2040=
ENST00000684656.1:c.9138A=
ENST00000613296.6:c.12054A= MANE Select	ENSP00000482968.1:p.Ala4018=
ENST00000651057.1:c.2208A=	ENSP00000498504.1:p.Ala736=
ENST00000651434.1:c.3410A=
ENST00000651750.1:c.1260+495A=
ENST00000652487.1:c.3225A=
ENST00000464408.3:n.229A=
ENST00000484298.5:c.11928A=	ENSP00000478155.1:p.Ala3976=
ENST00000613296.4:c.12054A=	ENSP00000482968.1:p.Ala4018=
ENST00000620466.4:n.5857A=
NM_015120.4:c.12057A= , LRG_741t1:c.12057A=	NP_055935.4:p.Ala4019=
NM_001378454.1:c.12054A= MANE Select	NP_001365383.1:p.Ala4018=