Canonical Allele Identifier: CA427024395

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2782993
• ClinVar RCV Id: RCV003609390
• MyVariant Identifiers: chr2:g.73799472C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572345C>T , CM000664.2:g.73572345C>T	GRCh38
NC_000002.11:g.73799472C>T , CM000664.1:g.73799472C>T	GRCh37
NC_000002.10:g.73652980C>T	NCBI36
NG_011690.1:g.191593C>T , LRG_741:g.191593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10087C>T	ENSP00000507671.1:p.Leu3363=
ENST00000682801.1:c.10087C>T	ENSP00000507862.1:p.Leu3363=
ENST00000682859.1:c.10087C>T	ENSP00000508222.1:p.Leu3363=
ENST00000683791.1:c.3173C>T
ENST00000684460.1:c.7368C>T
ENST00000684548.1:c.10087C>T	ENSP00000507421.1:p.Leu3363=
ENST00000684590.1:c.4534C>T	ENSP00000507376.1:p.Leu1512=
ENST00000684656.1:c.7413C>T
ENST00000613296.6:c.10468C>T MANE Select	ENSP00000482968.1:p.Leu3490=
ENST00000651057.1:c.622C>T	ENSP00000498504.1:p.Leu208=
ENST00000651434.1:c.1824C>T
ENST00000652487.1:c.1565C>T
ENST00000423048.5:c.3959C>T	ENSP00000399833.1:n.3959C>T
ENST00000484298.5:c.10342C>T	ENSP00000478155.1:p.Leu3448=
ENST00000613296.4:c.10468C>T	ENSP00000482968.1:p.Leu3490=
ENST00000614410.4:c.10468C>T	ENSP00000479094.1:p.Leu3490=
ENST00000620466.4:n.4271C>T
NM_015120.4:c.10471C>T , LRG_741t1:c.10471C>T	NP_055935.4:p.Leu3491=
NM_001378454.1:c.10468C>T MANE Select	NP_001365383.1:p.Leu3490=