Canonical Allele Identifier: CA426783537

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828401C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601274C>T , CM000664.2:g.73601274C>T	GRCh38
NC_000002.11:g.73828401C>T , CM000664.1:g.73828401C>T	GRCh37
NC_000002.10:g.73681909C>T	NCBI36
NG_011690.1:g.220522C>T , LRG_741:g.220522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11571C>T	ENSP00000507671.1:p.Gly3857=
ENST00000682801.1:c.11167-911C>T	ENSP00000507862.1:n.11167-911C>T
ENST00000682859.1:c.11571C>T	ENSP00000508222.1:p.Gly3857=
ENST00000683791.1:c.4657C>T
ENST00000684460.1:c.8852C>T
ENST00000684548.1:c.11571C>T	ENSP00000507421.1:p.Gly3857=
ENST00000684590.1:c.6018C>T	ENSP00000507376.1:p.Gly2006=
ENST00000684656.1:c.9036C>T
ENST00000613296.6:c.11952C>T MANE Select	ENSP00000482968.1:p.Gly3984=
ENST00000651057.1:c.2106C>T	ENSP00000498504.1:p.Gly702=
ENST00000651434.1:c.3308C>T
ENST00000651750.1:c.1260+393C>T
ENST00000652487.1:c.3123C>T
ENST00000464408.3:n.127C>T
ENST00000484298.5:c.11826C>T	ENSP00000478155.1:p.Gly3942=
ENST00000613296.4:c.11952C>T	ENSP00000482968.1:p.Gly3984=
ENST00000620466.4:n.5755C>T
NM_015120.4:c.11955C>T , LRG_741t1:c.11955C>T	NP_055935.4:p.Gly3985=
NM_001378454.1:c.11952C>T MANE Select	NP_001365383.1:p.Gly3984=