Canonical Allele Identifier: CA347266849

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717086G>T (hg19) ; chr2:g.73489959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489959G>T , CM000664.2:g.73489959G>T	GRCh38
NC_000002.11:g.73717086G>T , CM000664.1:g.73717086G>T	GRCh37
NC_000002.10:g.73570594G>T	NCBI36
NG_011690.1:g.109207G>T , LRG_741:g.109207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7619G>T	ENSP00000507671.1:p.Gly2540Val
ENST00000682801.1:c.7619G>T	ENSP00000507862.1:p.Gly2540Val
ENST00000682859.1:c.7619G>T	ENSP00000508222.1:p.Gly2540Val
ENST00000683791.1:c.1011G>T
ENST00000684460.1:c.5071G>T
ENST00000684548.1:c.7619G>T	ENSP00000507421.1:p.Gly2540Val
ENST00000684590.1:c.2066G>T	ENSP00000507376.1:p.Gly689Val
ENST00000684656.1:c.5071G>T
ENST00000613296.6:c.8000G>T MANE Select	ENSP00000482968.1:p.Gly2667Val
ENST00000651434.1:c.896-29816G>T
ENST00000423048.5:c.2831G>T	ENSP00000399833.1:p.Gly944Val
ENST00000484298.5:c.7874G>T	ENSP00000478155.1:p.Gly2625Val
ENST00000613296.4:c.8000G>T	ENSP00000482968.1:p.Gly2667Val
ENST00000614410.4:c.8000G>T	ENSP00000479094.1:p.Gly2667Val
ENST00000620466.4:n.1803G>T
NM_015120.4:c.8003G>T , LRG_741t1:c.8003G>T	NP_055935.4:p.Gly2668Val
NM_001378454.1:c.8000G>T MANE Select	NP_001365383.1:p.Gly2667Val