Canonical Allele Identifier: CA1261033703

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601237C= , CM000664.2:g.73601237C=	GRCh38
NC_000002.11:g.73828364C= , CM000664.1:g.73828364C=	GRCh37
NC_000002.10:g.73681872C=	NCBI36
NG_011690.1:g.220485C= , LRG_741:g.220485C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11534C=	ENSP00000507671.1:p.Ser3845=
ENST00000682801.1:c.11167-948C=	ENSP00000507862.1:n.11167-948C=
ENST00000682859.1:c.11534C=	ENSP00000508222.1:p.Ser3845=
ENST00000683791.1:c.4620C=
ENST00000684460.1:c.8815C=
ENST00000684548.1:c.11534C=	ENSP00000507421.1:p.Ser3845=
ENST00000684590.1:c.5981C=	ENSP00000507376.1:p.Ser1994=
ENST00000684656.1:c.8999C=
ENST00000613296.6:c.11915C= MANE Select	ENSP00000482968.1:p.Ser3972=
ENST00000651057.1:c.2069C=	ENSP00000498504.1:p.Ser690=
ENST00000651434.1:c.3271C=
ENST00000651750.1:c.1260+356C=
ENST00000652487.1:c.3086C=
ENST00000464408.3:n.90C=
ENST00000484298.5:c.11789C=	ENSP00000478155.1:p.Ser3930=
ENST00000613296.4:c.11915C=	ENSP00000482968.1:p.Ser3972=
ENST00000620466.4:n.5718C=
NM_015120.4:c.11918C= , LRG_741t1:c.11918C=	NP_055935.4:p.Ser3973=
NM_001378454.1:c.11915C= MANE Select	NP_001365383.1:p.Ser3972=