Canonical Allele Identifier: CA1261021176

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572433C= , CM000664.2:g.73572433C=	GRCh38
NC_000002.11:g.73799560C= , CM000664.1:g.73799560C=	GRCh37
NC_000002.10:g.73653068C=	NCBI36
NG_011690.1:g.191681C= , LRG_741:g.191681C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10175C=	ENSP00000507671.1:p.Pro3392=
ENST00000682801.1:c.10175C=	ENSP00000507862.1:p.Pro3392=
ENST00000682859.1:c.10175C=	ENSP00000508222.1:p.Pro3392=
ENST00000683791.1:c.3261C=
ENST00000684460.1:c.7456C=
ENST00000684548.1:c.10175C=	ENSP00000507421.1:p.Pro3392=
ENST00000684590.1:c.4622C=	ENSP00000507376.1:p.Pro1541=
ENST00000684656.1:c.7501C=
ENST00000613296.6:c.10556C= MANE Select	ENSP00000482968.1:p.Pro3519=
ENST00000651057.1:c.710C=	ENSP00000498504.1:p.Pro237=
ENST00000651434.1:c.1912C=
ENST00000652487.1:c.1653C=
ENST00000423048.5:c.4047C=	ENSP00000399833.1:n.4047C=
ENST00000484298.5:c.10430C=	ENSP00000478155.1:p.Pro3477=
ENST00000613296.4:c.10556C=	ENSP00000482968.1:p.Pro3519=
ENST00000614410.4:c.10556C=	ENSP00000479094.1:p.Pro3519=
ENST00000620466.4:n.4359C=
NM_015120.4:c.10559C= , LRG_741t1:c.10559C=	NP_055935.4:p.Pro3520=
NM_001378454.1:c.10556C= MANE Select	NP_001365383.1:p.Pro3519=