Canonical Allele Identifier: CA347284922

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799703G>C (hg19) ; chr2:g.73572576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572576G>C , CM000664.2:g.73572576G>C	GRCh38
NC_000002.11:g.73799703G>C , CM000664.1:g.73799703G>C	GRCh37
NC_000002.10:g.73653211G>C	NCBI36
NG_011690.1:g.191824G>C , LRG_741:g.191824G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10318G>C	ENSP00000507671.1:p.Val3440Leu
ENST00000682801.1:c.10318G>C	ENSP00000507862.1:p.Val3440Leu
ENST00000682859.1:c.10318G>C	ENSP00000508222.1:p.Val3440Leu
ENST00000683791.1:c.3404G>C
ENST00000684460.1:c.7599G>C
ENST00000684548.1:c.10318G>C	ENSP00000507421.1:p.Val3440Leu
ENST00000684590.1:c.4765G>C	ENSP00000507376.1:p.Val1589Leu
ENST00000684656.1:c.7644G>C
ENST00000613296.6:c.10699G>C MANE Select	ENSP00000482968.1:p.Val3567Leu
ENST00000651057.1:c.853G>C	ENSP00000498504.1:p.Val285Leu
ENST00000651434.1:c.2055G>C
ENST00000651750.1:c.87G>C
ENST00000652487.1:c.1796G>C
ENST00000423048.5:c.4190G>C	ENSP00000399833.1:n.4190G>C
ENST00000484298.5:c.10573G>C	ENSP00000478155.1:p.Val3525Leu
ENST00000613296.4:c.10699G>C	ENSP00000482968.1:p.Val3567Leu
ENST00000614410.4:c.10699G>C	ENSP00000479094.1:p.Val3567Leu
ENST00000620466.4:n.4502G>C
NM_015120.4:c.10702G>C , LRG_741t1:c.10702G>C	NP_055935.4:p.Val3568Leu
NM_001378454.1:c.10699G>C MANE Select	NP_001365383.1:p.Val3567Leu