Canonical Allele Identifier: CA1714582

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490965G>C , CM000664.2:g.73490965G>C	GRCh38
NC_000002.11:g.73718092G>C , CM000664.1:g.73718092G>C	GRCh37
NC_000002.10:g.73571600G>C	NCBI36
NG_011690.1:g.110213G>C , LRG_741:g.110213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.8625G>C	ENSP00000507671.1:p.Lys2875Asn
ENST00000682801.1:c.8625G>C	ENSP00000507862.1:p.Lys2875Asn
ENST00000682859.1:c.8625G>C	ENSP00000508222.1:p.Lys2875Asn
ENST00000683791.1:c.2017G>C
ENST00000684460.1:c.6077G>C
ENST00000684548.1:c.8625G>C	ENSP00000507421.1:p.Lys2875Asn
ENST00000684590.1:c.3072G>C	ENSP00000507376.1:p.Lys1024Asn
ENST00000684656.1:c.6077G>C
ENST00000613296.6:c.9006G>C MANE Select	ENSP00000482968.1:p.Lys3002Asn
ENST00000651434.1:c.896-28810G>C
ENST00000652487.1:c.103G>C
ENST00000423048.5:c.3030+807G>C	ENSP00000399833.1:n.3030+807G>C
ENST00000484298.5:c.8880G>C	ENSP00000478155.1:p.Lys2960Asn
ENST00000613296.4:c.9006G>C	ENSP00000482968.1:p.Lys3002Asn
ENST00000614410.4:c.9006G>C	ENSP00000479094.1:p.Lys3002Asn
ENST00000620466.4:n.2809G>C
NM_015120.4:c.9009G>C , LRG_741t1:c.9009G>C	NP_055935.4:p.Lys3003Asn
NM_001378454.1:c.9006G>C MANE Select	NP_001365383.1:p.Lys3002Asn