Canonical Allele Identifier: CA347265481

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828343T>G (hg19) ; chr2:g.73601216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601216T>G , CM000664.2:g.73601216T>G	GRCh38
NC_000002.11:g.73828343T>G , CM000664.1:g.73828343T>G	GRCh37
NC_000002.10:g.73681851T>G	NCBI36
NG_011690.1:g.220464T>G , LRG_741:g.220464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11513T>G	ENSP00000507671.1:p.Val3838Gly
ENST00000682801.1:c.11167-969T>G	ENSP00000507862.1:n.11167-969T>G
ENST00000682859.1:c.11513T>G	ENSP00000508222.1:p.Val3838Gly
ENST00000683791.1:c.4599T>G
ENST00000684460.1:c.8794T>G
ENST00000684548.1:c.11513T>G	ENSP00000507421.1:p.Val3838Gly
ENST00000684590.1:c.5960T>G	ENSP00000507376.1:p.Val1987Gly
ENST00000684656.1:c.8978T>G
ENST00000613296.6:c.11894T>G MANE Select	ENSP00000482968.1:p.Val3965Gly
ENST00000651057.1:c.2048T>G	ENSP00000498504.1:p.Val683Gly
ENST00000651434.1:c.3250T>G
ENST00000651750.1:c.1260+335T>G
ENST00000652487.1:c.3065T>G
ENST00000464408.3:n.69T>G
ENST00000484298.5:c.11768T>G	ENSP00000478155.1:p.Val3923Gly
ENST00000613296.4:c.11894T>G	ENSP00000482968.1:p.Val3965Gly
ENST00000620466.4:n.5697T>G
NM_015120.4:c.11897T>G , LRG_741t1:c.11897T>G	NP_055935.4:p.Val3966Gly
NM_001378454.1:c.11894T>G MANE Select	NP_001365383.1:p.Val3965Gly