Canonical Allele Identifier: CA347285631

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799814A>C (hg19) ; chr2:g.73572687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572687A>C , CM000664.2:g.73572687A>C	GRCh38
NC_000002.11:g.73799814A>C , CM000664.1:g.73799814A>C	GRCh37
NC_000002.10:g.73653322A>C	NCBI36
NG_011690.1:g.191935A>C , LRG_741:g.191935A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10429A>C	ENSP00000507671.1:p.Lys3477Gln
ENST00000682801.1:c.10429A>C	ENSP00000507862.1:p.Lys3477Gln
ENST00000682859.1:c.10429A>C	ENSP00000508222.1:p.Lys3477Gln
ENST00000683791.1:c.3515A>C
ENST00000684460.1:c.7710A>C
ENST00000684548.1:c.10429A>C	ENSP00000507421.1:p.Lys3477Gln
ENST00000684590.1:c.4876A>C	ENSP00000507376.1:p.Lys1626Gln
ENST00000684656.1:c.7755A>C
ENST00000613296.6:c.10810A>C MANE Select	ENSP00000482968.1:p.Lys3604Gln
ENST00000651057.1:c.964A>C	ENSP00000498504.1:p.Lys322Gln
ENST00000651434.1:c.2166A>C
ENST00000651750.1:c.198A>C
ENST00000652487.1:c.1907A>C
ENST00000423048.5:c.4301A>C	ENSP00000399833.1:n.4301A>C
ENST00000484298.5:c.10684A>C	ENSP00000478155.1:p.Lys3562Gln
ENST00000613296.4:c.10810A>C	ENSP00000482968.1:p.Lys3604Gln
ENST00000614410.4:c.10810A>C	ENSP00000479094.1:p.Lys3604Gln
ENST00000620466.4:n.4613A>C
NM_015120.4:c.10813A>C , LRG_741t1:c.10813A>C	NP_055935.4:p.Lys3605Gln
NM_001378454.1:c.10810A>C MANE Select	NP_001365383.1:p.Lys3604Gln