Canonical Allele Identifier: CA1261020885

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572321T= , CM000664.2:g.73572321T=	GRCh38
NC_000002.11:g.73799448T= , CM000664.1:g.73799448T=	GRCh37
NC_000002.10:g.73652956T=	NCBI36
NG_011690.1:g.191569T= , LRG_741:g.191569T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10063T=	ENSP00000507671.1:p.Phe3355=
ENST00000682801.1:c.10063T=	ENSP00000507862.1:p.Phe3355=
ENST00000682859.1:c.10063T=	ENSP00000508222.1:p.Phe3355=
ENST00000683791.1:c.3149T=
ENST00000684460.1:c.7344T=
ENST00000684548.1:c.10063T=	ENSP00000507421.1:p.Phe3355=
ENST00000684590.1:c.4510T=	ENSP00000507376.1:p.Phe1504=
ENST00000684656.1:c.7389T=
ENST00000613296.6:c.10444T= MANE Select	ENSP00000482968.1:p.Phe3482=
ENST00000651057.1:c.598T=	ENSP00000498504.1:p.Phe200=
ENST00000651434.1:c.1800T=
ENST00000652487.1:c.1541T=
ENST00000423048.5:c.3935T=	ENSP00000399833.1:n.3935T=
ENST00000484298.5:c.10318T=	ENSP00000478155.1:p.Phe3440=
ENST00000613296.4:c.10444T=	ENSP00000482968.1:p.Phe3482=
ENST00000614410.4:c.10444T=	ENSP00000479094.1:p.Phe3482=
ENST00000620466.4:n.4247T=
NM_015120.4:c.10447T= , LRG_741t1:c.10447T=	NP_055935.4:p.Phe3483=
NM_001378454.1:c.10444T= MANE Select	NP_001365383.1:p.Phe3482=