Canonical Allele Identifier: CA427024671

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799546C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572419C>T , CM000664.2:g.73572419C>T	GRCh38
NC_000002.11:g.73799546C>T , CM000664.1:g.73799546C>T	GRCh37
NC_000002.10:g.73653054C>T	NCBI36
NG_011690.1:g.191667C>T , LRG_741:g.191667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10161C>T	ENSP00000507671.1:p.Phe3387=
ENST00000682801.1:c.10161C>T	ENSP00000507862.1:p.Phe3387=
ENST00000682859.1:c.10161C>T	ENSP00000508222.1:p.Phe3387=
ENST00000683791.1:c.3247C>T
ENST00000684460.1:c.7442C>T
ENST00000684548.1:c.10161C>T	ENSP00000507421.1:p.Phe3387=
ENST00000684590.1:c.4608C>T	ENSP00000507376.1:p.Phe1536=
ENST00000684656.1:c.7487C>T
ENST00000613296.6:c.10542C>T MANE Select	ENSP00000482968.1:p.Phe3514=
ENST00000651057.1:c.696C>T	ENSP00000498504.1:p.Phe232=
ENST00000651434.1:c.1898C>T
ENST00000652487.1:c.1639C>T
ENST00000423048.5:c.4033C>T	ENSP00000399833.1:n.4033C>T
ENST00000484298.5:c.10416C>T	ENSP00000478155.1:p.Phe3472=
ENST00000613296.4:c.10542C>T	ENSP00000482968.1:p.Phe3514=
ENST00000614410.4:c.10542C>T	ENSP00000479094.1:p.Phe3514=
ENST00000620466.4:n.4345C>T
NM_015120.4:c.10545C>T , LRG_741t1:c.10545C>T	NP_055935.4:p.Phe3515=
NM_001378454.1:c.10542C>T MANE Select	NP_001365383.1:p.Phe3514=