Canonical Allele Identifier: CA347282937

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799455T>G (hg19) ; chr2:g.73572328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572328T>G , CM000664.2:g.73572328T>G	GRCh38
NC_000002.11:g.73799455T>G , CM000664.1:g.73799455T>G	GRCh37
NC_000002.10:g.73652963T>G	NCBI36
NG_011690.1:g.191576T>G , LRG_741:g.191576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10070T>G	ENSP00000507671.1:p.Ile3357Ser
ENST00000682801.1:c.10070T>G	ENSP00000507862.1:p.Ile3357Ser
ENST00000682859.1:c.10070T>G	ENSP00000508222.1:p.Ile3357Ser
ENST00000683791.1:c.3156T>G
ENST00000684460.1:c.7351T>G
ENST00000684548.1:c.10070T>G	ENSP00000507421.1:p.Ile3357Ser
ENST00000684590.1:c.4517T>G	ENSP00000507376.1:p.Ile1506Ser
ENST00000684656.1:c.7396T>G
ENST00000613296.6:c.10451T>G MANE Select	ENSP00000482968.1:p.Ile3484Ser
ENST00000651057.1:c.605T>G	ENSP00000498504.1:p.Ile202Ser
ENST00000651434.1:c.1807T>G
ENST00000652487.1:c.1548T>G
ENST00000423048.5:c.3942T>G	ENSP00000399833.1:n.3942T>G
ENST00000484298.5:c.10325T>G	ENSP00000478155.1:p.Ile3442Ser
ENST00000613296.4:c.10451T>G	ENSP00000482968.1:p.Ile3484Ser
ENST00000614410.4:c.10451T>G	ENSP00000479094.1:p.Ile3484Ser
ENST00000620466.4:n.4254T>G
NM_015120.4:c.10454T>G , LRG_741t1:c.10454T>G	NP_055935.4:p.Ile3485Ser
NM_001378454.1:c.10451T>G MANE Select	NP_001365383.1:p.Ile3484Ser