Canonical Allele Identifier: CA347265360

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828324G>C (hg19) ; chr2:g.73601197G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601197G>C , CM000664.2:g.73601197G>C	GRCh38
NC_000002.11:g.73828324G>C , CM000664.1:g.73828324G>C	GRCh37
NC_000002.10:g.73681832G>C	NCBI36
NG_011690.1:g.220445G>C , LRG_741:g.220445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11494G>C	ENSP00000507671.1:p.Val3832Leu
ENST00000682801.1:c.11167-988G>C	ENSP00000507862.1:n.11167-988G>C
ENST00000682859.1:c.11494G>C	ENSP00000508222.1:p.Val3832Leu
ENST00000683791.1:c.4580G>C
ENST00000684460.1:c.8775G>C
ENST00000684548.1:c.11494G>C	ENSP00000507421.1:p.Val3832Leu
ENST00000684590.1:c.5941G>C	ENSP00000507376.1:p.Val1981Leu
ENST00000684656.1:c.8959G>C
ENST00000613296.6:c.11875G>C MANE Select	ENSP00000482968.1:p.Val3959Leu
ENST00000651057.1:c.2029G>C	ENSP00000498504.1:p.Val677Leu
ENST00000651434.1:c.3231G>C
ENST00000651750.1:c.1260+316G>C
ENST00000652487.1:c.3046G>C
ENST00000464408.3:n.50G>C
ENST00000484298.5:c.11749G>C	ENSP00000478155.1:p.Val3917Leu
ENST00000613296.4:c.11875G>C	ENSP00000482968.1:p.Val3959Leu
ENST00000620466.4:n.5678G>C
NM_015120.4:c.11878G>C , LRG_741t1:c.11878G>C	NP_055935.4:p.Val3960Leu
NM_001378454.1:c.11875G>C MANE Select	NP_001365383.1:p.Val3959Leu