Canonical Allele Identifier: CA347284494

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799654C>G (hg19) ; chr2:g.73572527C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10269C>G	ENSP00000507671.1:p.Ile3423Met
ENST00000682801.1:c.10269C>G	ENSP00000507862.1:p.Ile3423Met
ENST00000682859.1:c.10269C>G	ENSP00000508222.1:p.Ile3423Met
ENST00000683791.1:c.3355C>G
ENST00000684460.1:c.7550C>G
ENST00000684548.1:c.10269C>G	ENSP00000507421.1:p.Ile3423Met
ENST00000684590.1:c.4716C>G	ENSP00000507376.1:p.Ile1572Met
ENST00000684656.1:c.7595C>G
ENST00000613296.6:c.10650C>G MANE Select	ENSP00000482968.1:p.Ile3550Met
ENST00000651057.1:c.804C>G	ENSP00000498504.1:p.Ile268Met
ENST00000651434.1:c.2006C>G
ENST00000651750.1:c.38C>G
ENST00000652487.1:c.1747C>G
ENST00000423048.5:c.4141C>G	ENSP00000399833.1:n.4141C>G
ENST00000484298.5:c.10524C>G	ENSP00000478155.1:p.Ile3508Met
ENST00000613296.4:c.10650C>G	ENSP00000482968.1:p.Ile3550Met
ENST00000614410.4:c.10650C>G	ENSP00000479094.1:p.Ile3550Met
ENST00000620466.4:n.4453C>G
NM_015120.4:c.10653C>G , LRG_741t1:c.10653C>G	NP_055935.4:p.Ile3551Met
NM_001378454.1:c.10650C>G MANE Select	NP_001365383.1:p.Ile3550Met