Canonical Allele Identifier: CA427024145

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799945A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572818A>T , CM000664.2:g.73572818A>T	GRCh38
NC_000002.11:g.73799945A>T , CM000664.1:g.73799945A>T	GRCh37
NC_000002.10:g.73653453A>T	NCBI36
NG_011690.1:g.192066A>T , LRG_741:g.192066A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10560A>T	ENSP00000507671.1:p.Ser3520=
ENST00000682801.1:c.10560A>T	ENSP00000507862.1:p.Ser3520=
ENST00000682859.1:c.10560A>T	ENSP00000508222.1:p.Ser3520=
ENST00000683791.1:c.3646A>T
ENST00000684460.1:c.7841A>T
ENST00000684548.1:c.10560A>T	ENSP00000507421.1:p.Ser3520=
ENST00000684590.1:c.5007A>T	ENSP00000507376.1:p.Ser1669=
ENST00000684656.1:c.7886A>T
ENST00000613296.6:c.10941A>T MANE Select	ENSP00000482968.1:p.Ser3647=
ENST00000651057.1:c.1095A>T	ENSP00000498504.1:p.Ser365=
ENST00000651434.1:c.2297A>T
ENST00000651750.1:c.329A>T
ENST00000652487.1:c.2038A>T
ENST00000423048.5:c.4432A>T	ENSP00000399833.1:n.4432A>T
ENST00000484298.5:c.10815A>T	ENSP00000478155.1:p.Ser3605=
ENST00000613296.4:c.10941A>T	ENSP00000482968.1:p.Ser3647=
ENST00000614410.4:c.10941A>T	ENSP00000479094.1:p.Ser3647=
ENST00000620466.4:n.4744A>T
NM_015120.4:c.10944A>T , LRG_741t1:c.10944A>T	NP_055935.4:p.Ser3648=
NM_001378454.1:c.10941A>T MANE Select	NP_001365383.1:p.Ser3647=