Canonical Allele Identifier: CA1261021245

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572513A= , CM000664.2:g.73572513A=	GRCh38
NC_000002.11:g.73799640A= , CM000664.1:g.73799640A=	GRCh37
NC_000002.10:g.73653148A=	NCBI36
NG_011690.1:g.191761A= , LRG_741:g.191761A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10255A=	ENSP00000507671.1:p.Lys3419=
ENST00000682801.1:c.10255A=	ENSP00000507862.1:p.Lys3419=
ENST00000682859.1:c.10255A=	ENSP00000508222.1:p.Lys3419=
ENST00000683791.1:c.3341A=
ENST00000684460.1:c.7536A=
ENST00000684548.1:c.10255A=	ENSP00000507421.1:p.Lys3419=
ENST00000684590.1:c.4702A=	ENSP00000507376.1:p.Lys1568=
ENST00000684656.1:c.7581A=
ENST00000613296.6:c.10636A= MANE Select	ENSP00000482968.1:p.Lys3546=
ENST00000651057.1:c.790A=	ENSP00000498504.1:p.Lys264=
ENST00000651434.1:c.1992A=
ENST00000651750.1:c.24A=
ENST00000652487.1:c.1733A=
ENST00000423048.5:c.4127A=	ENSP00000399833.1:n.4127A=
ENST00000484298.5:c.10510A=	ENSP00000478155.1:p.Lys3504=
ENST00000613296.4:c.10636A=	ENSP00000482968.1:p.Lys3546=
ENST00000614410.4:c.10636A=	ENSP00000479094.1:p.Lys3546=
ENST00000620466.4:n.4439A=
NM_015120.4:c.10639A= , LRG_741t1:c.10639A=	NP_055935.4:p.Lys3547=
NM_001378454.1:c.10636A= MANE Select	NP_001365383.1:p.Lys3546=