Canonical Allele Identifier: CA1261020920

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572339G= , CM000664.2:g.73572339G=	GRCh38
NC_000002.11:g.73799466G= , CM000664.1:g.73799466G=	GRCh37
NC_000002.10:g.73652974G=	NCBI36
NG_011690.1:g.191587G= , LRG_741:g.191587G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10081G=	ENSP00000507671.1:p.Val3361=
ENST00000682801.1:c.10081G=	ENSP00000507862.1:p.Val3361=
ENST00000682859.1:c.10081G=	ENSP00000508222.1:p.Val3361=
ENST00000683791.1:c.3167G=
ENST00000684460.1:c.7362G=
ENST00000684548.1:c.10081G=	ENSP00000507421.1:p.Val3361=
ENST00000684590.1:c.4528G=	ENSP00000507376.1:p.Val1510=
ENST00000684656.1:c.7407G=
ENST00000613296.6:c.10462G= MANE Select	ENSP00000482968.1:p.Val3488=
ENST00000651057.1:c.616G=	ENSP00000498504.1:p.Val206=
ENST00000651434.1:c.1818G=
ENST00000652487.1:c.1559G=
ENST00000423048.5:c.3953G=	ENSP00000399833.1:n.3953G=
ENST00000484298.5:c.10336G=	ENSP00000478155.1:p.Val3446=
ENST00000613296.4:c.10462G=	ENSP00000482968.1:p.Val3488=
ENST00000614410.4:c.10462G=	ENSP00000479094.1:p.Val3488=
ENST00000620466.4:n.4265G=
NM_015120.4:c.10465G= , LRG_741t1:c.10465G=	NP_055935.4:p.Val3489=
NM_001378454.1:c.10462G= MANE Select	NP_001365383.1:p.Val3488=