Canonical Allele Identifier: CA427001101

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490152-T-G
• MyVariant Identifiers: chr2:g.73717279T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490152T>G , CM000664.2:g.73490152T>G	GRCh38
NC_000002.11:g.73717279T>G , CM000664.1:g.73717279T>G	GRCh37
NC_000002.10:g.73570787T>G	NCBI36
NG_011690.1:g.109400T>G , LRG_741:g.109400T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7812T>G	ENSP00000507671.1:p.Val2604=
ENST00000682801.1:c.7812T>G	ENSP00000507862.1:p.Val2604=
ENST00000682859.1:c.7812T>G	ENSP00000508222.1:p.Val2604=
ENST00000683791.1:c.1204T>G
ENST00000684460.1:c.5264T>G
ENST00000684548.1:c.7812T>G	ENSP00000507421.1:p.Val2604=
ENST00000684590.1:c.2259T>G	ENSP00000507376.1:p.Val753=
ENST00000684656.1:c.5264T>G
ENST00000613296.6:c.8193T>G MANE Select	ENSP00000482968.1:p.Val2731=
ENST00000651434.1:c.896-29623T>G
ENST00000423048.5:c.3024T>G	ENSP00000399833.1:p.Val1008=
ENST00000484298.5:c.8067T>G	ENSP00000478155.1:p.Val2689=
ENST00000613296.4:c.8193T>G	ENSP00000482968.1:p.Val2731=
ENST00000614410.4:c.8193T>G	ENSP00000479094.1:p.Val2731=
ENST00000620466.4:n.1996T>G
NM_015120.4:c.8196T>G , LRG_741t1:c.8196T>G	NP_055935.4:p.Val2732=
NM_001378454.1:c.8193T>G MANE Select	NP_001365383.1:p.Val2731=