Canonical Allele Identifier: CA1714577

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490948A>C , CM000664.2:g.73490948A>C	GRCh38
NC_000002.11:g.73718075A>C , CM000664.1:g.73718075A>C	GRCh37
NC_000002.10:g.73571583A>C	NCBI36
NG_011690.1:g.110196A>C , LRG_741:g.110196A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8989A>C MANE Select	NP_001365383.1:p.Lys2997Gln
ENST00000613296.6:c.8989A>C MANE Select	ENSP00000482968.1:p.Lys2997Gln
NM_015120.4:c.8992A>C , LRG_741t1:c.8992A>C	NP_055935.4:p.Lys2998Gln
ENST00000423048.5:c.3030+790A>C	ENSP00000399833.1:n.3030+790A>C
ENST00000484298.5:c.8863A>C	ENSP00000478155.1:p.Lys2955Gln
ENST00000613296.4:c.8989A>C	ENSP00000482968.1:p.Lys2997Gln
ENST00000614410.4:c.8989A>C	ENSP00000479094.1:p.Lys2997Gln
ENST00000620466.4:n.2792A>C
ENST00000651434.1:c.896-28827A>C
ENST00000652487.1:c.86A>C
ENST00000682565.1:c.8608A>C	ENSP00000507671.1:p.Lys2870Gln
ENST00000682801.1:c.8608A>C	ENSP00000507862.1:p.Lys2870Gln
ENST00000682859.1:c.8608A>C	ENSP00000508222.1:p.Lys2870Gln
ENST00000683791.1:c.2000A>C
ENST00000684460.1:c.6060A>C
ENST00000684548.1:c.8608A>C	ENSP00000507421.1:p.Lys2870Gln
ENST00000684590.1:c.3055A>C	ENSP00000507376.1:p.Lys1019Gln
ENST00000684656.1:c.6060A>C