Canonical Allele Identifier: CA427024089

Gene: ALMS1

Linked Data

• dbSNP Id: rs1573030169
• MyVariant Identifiers: chr2:g.73799654C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572527C>A , CM000664.2:g.73572527C>A	GRCh38
NC_000002.11:g.73799654C>A , CM000664.1:g.73799654C>A	GRCh37
NC_000002.10:g.73653162C>A	NCBI36
NG_011690.1:g.191775C>A , LRG_741:g.191775C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10269C>A	ENSP00000507671.1:p.Ile3423=
ENST00000682801.1:c.10269C>A	ENSP00000507862.1:p.Ile3423=
ENST00000682859.1:c.10269C>A	ENSP00000508222.1:p.Ile3423=
ENST00000683791.1:c.3355C>A
ENST00000684460.1:c.7550C>A
ENST00000684548.1:c.10269C>A	ENSP00000507421.1:p.Ile3423=
ENST00000684590.1:c.4716C>A	ENSP00000507376.1:p.Ile1572=
ENST00000684656.1:c.7595C>A
ENST00000613296.6:c.10650C>A MANE Select	ENSP00000482968.1:p.Ile3550=
ENST00000651057.1:c.804C>A	ENSP00000498504.1:p.Ile268=
ENST00000651434.1:c.2006C>A
ENST00000651750.1:c.38C>A
ENST00000652487.1:c.1747C>A
ENST00000423048.5:c.4141C>A	ENSP00000399833.1:n.4141C>A
ENST00000484298.5:c.10524C>A	ENSP00000478155.1:p.Ile3508=
ENST00000613296.4:c.10650C>A	ENSP00000482968.1:p.Ile3550=
ENST00000614410.4:c.10650C>A	ENSP00000479094.1:p.Ile3550=
ENST00000620466.4:n.4453C>A
NM_015120.4:c.10653C>A , LRG_741t1:c.10653C>A	NP_055935.4:p.Ile3551=
NM_001378454.1:c.10650C>A MANE Select	NP_001365383.1:p.Ile3550=