Canonical Allele Identifier: CA1260981698

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490213T= , CM000664.2:g.73490213T=	GRCh38
NC_000002.11:g.73717340T= , CM000664.1:g.73717340T=	GRCh37
NC_000002.10:g.73570848T=	NCBI36
NG_011690.1:g.109461T= , LRG_741:g.109461T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7873T=	ENSP00000507671.1:p.Ser2625=
ENST00000682801.1:c.7873T=	ENSP00000507862.1:p.Ser2625=
ENST00000682859.1:c.7873T=	ENSP00000508222.1:p.Ser2625=
ENST00000683791.1:c.1265T=
ENST00000684460.1:c.5325T=
ENST00000684548.1:c.7873T=	ENSP00000507421.1:p.Ser2625=
ENST00000684590.1:c.2320T=	ENSP00000507376.1:p.Ser774=
ENST00000684656.1:c.5325T=
ENST00000613296.6:c.8254T= MANE Select	ENSP00000482968.1:p.Ser2752=
ENST00000651434.1:c.896-29562T=
ENST00000423048.5:c.3030+55T=	ENSP00000399833.1:n.3030+55T=
ENST00000484298.5:c.8128T=	ENSP00000478155.1:p.Ser2710=
ENST00000613296.4:c.8254T=	ENSP00000482968.1:p.Ser2752=
ENST00000614410.4:c.8254T=	ENSP00000479094.1:p.Ser2752=
ENST00000620466.4:n.2057T=
NM_015120.4:c.8257T= , LRG_741t1:c.8257T=	NP_055935.4:p.Ser2753=
NM_001378454.1:c.8254T= MANE Select	NP_001365383.1:p.Ser2752=