Canonical Allele Identifier: CA347286610

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799983T>A (hg19) ; chr2:g.73572856T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572856T>A , CM000664.2:g.73572856T>A	GRCh38
NC_000002.11:g.73799983T>A , CM000664.1:g.73799983T>A	GRCh37
NC_000002.10:g.73653491T>A	NCBI36
NG_011690.1:g.192104T>A , LRG_741:g.192104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10598T>A	ENSP00000507671.1:p.Val3533Glu
ENST00000682801.1:c.10598T>A	ENSP00000507862.1:p.Val3533Glu
ENST00000682859.1:c.10598T>A	ENSP00000508222.1:p.Val3533Glu
ENST00000683791.1:c.3684T>A
ENST00000684460.1:c.7879T>A
ENST00000684548.1:c.10598T>A	ENSP00000507421.1:p.Val3533Glu
ENST00000684590.1:c.5045T>A	ENSP00000507376.1:p.Val1682Glu
ENST00000684656.1:c.7924T>A
ENST00000613296.6:c.10979T>A MANE Select	ENSP00000482968.1:p.Val3660Glu
ENST00000651057.1:c.1133T>A	ENSP00000498504.1:p.Val378Glu
ENST00000651434.1:c.2335T>A
ENST00000651750.1:c.367T>A
ENST00000652487.1:c.2076T>A
ENST00000423048.5:c.4470T>A	ENSP00000399833.1:n.4470T>A
ENST00000484298.5:c.10853T>A	ENSP00000478155.1:p.Val3618Glu
ENST00000613296.4:c.10979T>A	ENSP00000482968.1:p.Val3660Glu
ENST00000614410.4:c.10979T>A	ENSP00000479094.1:p.Val3660Glu
ENST00000620466.4:n.4782T>A
NM_015120.4:c.10982T>A , LRG_741t1:c.10982T>A	NP_055935.4:p.Val3661Glu
NM_001378454.1:c.10979T>A MANE Select	NP_001365383.1:p.Val3660Glu