Canonical Allele Identifier: CA1260981551

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490139C= , CM000664.2:g.73490139C=	GRCh38
NC_000002.11:g.73717266C= , CM000664.1:g.73717266C=	GRCh37
NC_000002.10:g.73570774C=	NCBI36
NG_011690.1:g.109387C= , LRG_741:g.109387C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7799C=	ENSP00000507671.1:p.Ser2600=
ENST00000682801.1:c.7799C=	ENSP00000507862.1:p.Ser2600=
ENST00000682859.1:c.7799C=	ENSP00000508222.1:p.Ser2600=
ENST00000683791.1:c.1191C=
ENST00000684460.1:c.5251C=
ENST00000684548.1:c.7799C=	ENSP00000507421.1:p.Ser2600=
ENST00000684590.1:c.2246C=	ENSP00000507376.1:p.Ser749=
ENST00000684656.1:c.5251C=
ENST00000613296.6:c.8180C= MANE Select	ENSP00000482968.1:p.Ser2727=
ENST00000651434.1:c.896-29636C=
ENST00000423048.5:c.3011C=	ENSP00000399833.1:p.Ser1004=
ENST00000484298.5:c.8054C=	ENSP00000478155.1:p.Ser2685=
ENST00000613296.4:c.8180C=	ENSP00000482968.1:p.Ser2727=
ENST00000614410.4:c.8180C=	ENSP00000479094.1:p.Ser2727=
ENST00000620466.4:n.1983C=
NM_015120.4:c.8183C= , LRG_741t1:c.8183C=	NP_055935.4:p.Ser2728=
NM_001378454.1:c.8180C= MANE Select	NP_001365383.1:p.Ser2727=