Canonical Allele Identifier: CA347287008

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800035G>C (hg19) ; chr2:g.73572908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572908G>C , CM000664.2:g.73572908G>C	GRCh38
NC_000002.11:g.73800035G>C , CM000664.1:g.73800035G>C	GRCh37
NC_000002.10:g.73653543G>C	NCBI36
NG_011690.1:g.192156G>C , LRG_741:g.192156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10650G>C	ENSP00000507671.1:p.Lys3550Asn
ENST00000682801.1:c.10650G>C	ENSP00000507862.1:p.Lys3550Asn
ENST00000682859.1:c.10650G>C	ENSP00000508222.1:p.Lys3550Asn
ENST00000683791.1:c.3736G>C
ENST00000684460.1:c.7931G>C
ENST00000684548.1:c.10650G>C	ENSP00000507421.1:p.Lys3550Asn
ENST00000684590.1:c.5097G>C	ENSP00000507376.1:p.Lys1699Asn
ENST00000684656.1:c.7976G>C
ENST00000613296.6:c.11031G>C MANE Select	ENSP00000482968.1:p.Lys3677Asn
ENST00000651057.1:c.1185G>C	ENSP00000498504.1:p.Lys395Asn
ENST00000651434.1:c.2387G>C
ENST00000651750.1:c.419G>C
ENST00000652487.1:c.2128G>C
ENST00000423048.5:c.4522G>C	ENSP00000399833.1:n.4522G>C
ENST00000484298.5:c.10905G>C	ENSP00000478155.1:p.Lys3635Asn
ENST00000613296.4:c.11031G>C	ENSP00000482968.1:p.Lys3677Asn
ENST00000614410.4:c.11031G>C	ENSP00000479094.1:p.Lys3677Asn
ENST00000620466.4:n.4834G>C
NM_015120.4:c.11034G>C , LRG_741t1:c.11034G>C	NP_055935.4:p.Lys3678Asn
NM_001378454.1:c.11031G>C MANE Select	NP_001365383.1:p.Lys3677Asn