Canonical Allele Identifier: CA1261022008

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572838G= , CM000664.2:g.73572838G=	GRCh38
NC_000002.11:g.73799965G= , CM000664.1:g.73799965G=	GRCh37
NC_000002.10:g.73653473G=	NCBI36
NG_011690.1:g.192086G= , LRG_741:g.192086G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10580G=	ENSP00000507671.1:p.Ser3527=
ENST00000682801.1:c.10580G=	ENSP00000507862.1:p.Ser3527=
ENST00000682859.1:c.10580G=	ENSP00000508222.1:p.Ser3527=
ENST00000683791.1:c.3666G=
ENST00000684460.1:c.7861G=
ENST00000684548.1:c.10580G=	ENSP00000507421.1:p.Ser3527=
ENST00000684590.1:c.5027G=	ENSP00000507376.1:p.Ser1676=
ENST00000684656.1:c.7906G=
ENST00000613296.6:c.10961G= MANE Select	ENSP00000482968.1:p.Ser3654=
ENST00000651057.1:c.1115G=	ENSP00000498504.1:p.Ser372=
ENST00000651434.1:c.2317G=
ENST00000651750.1:c.349G=
ENST00000652487.1:c.2058G=
ENST00000423048.5:c.4452G=	ENSP00000399833.1:n.4452G=
ENST00000484298.5:c.10835G=	ENSP00000478155.1:p.Ser3612=
ENST00000613296.4:c.10961G=	ENSP00000482968.1:p.Ser3654=
ENST00000614410.4:c.10961G=	ENSP00000479094.1:p.Ser3654=
ENST00000620466.4:n.4764G=
NM_015120.4:c.10964G= , LRG_741t1:c.10964G=	NP_055935.4:p.Ser3655=
NM_001378454.1:c.10961G= MANE Select	NP_001365383.1:p.Ser3654=