Canonical Allele Identifier: CA1261022098

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572894C= , CM000664.2:g.73572894C=	GRCh38
NC_000002.11:g.73800021C= , CM000664.1:g.73800021C=	GRCh37
NC_000002.10:g.73653529C=	NCBI36
NG_011690.1:g.192142C= , LRG_741:g.192142C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10636C=	ENSP00000507671.1:p.Leu3546=
ENST00000682801.1:c.10636C=	ENSP00000507862.1:p.Leu3546=
ENST00000682859.1:c.10636C=	ENSP00000508222.1:p.Leu3546=
ENST00000683791.1:c.3722C=
ENST00000684460.1:c.7917C=
ENST00000684548.1:c.10636C=	ENSP00000507421.1:p.Leu3546=
ENST00000684590.1:c.5083C=	ENSP00000507376.1:p.Leu1695=
ENST00000684656.1:c.7962C=
ENST00000613296.6:c.11017C= MANE Select	ENSP00000482968.1:p.Leu3673=
ENST00000651057.1:c.1171C=	ENSP00000498504.1:p.Leu391=
ENST00000651434.1:c.2373C=
ENST00000651750.1:c.405C=
ENST00000652487.1:c.2114C=
ENST00000423048.5:c.4508C=	ENSP00000399833.1:n.4508C=
ENST00000484298.5:c.10891C=	ENSP00000478155.1:p.Leu3631=
ENST00000613296.4:c.11017C=	ENSP00000482968.1:p.Leu3673=
ENST00000614410.4:c.11017C=	ENSP00000479094.1:p.Leu3673=
ENST00000620466.4:n.4820C=
NM_015120.4:c.11020C= , LRG_741t1:c.11020C=	NP_055935.4:p.Leu3674=
NM_001378454.1:c.11017C= MANE Select	NP_001365383.1:p.Leu3673=