Canonical Allele Identifier: CA347285084

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799724A>T (hg19) ; chr2:g.73572597A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572597A>T , CM000664.2:g.73572597A>T	GRCh38
NC_000002.11:g.73799724A>T , CM000664.1:g.73799724A>T	GRCh37
NC_000002.10:g.73653232A>T	NCBI36
NG_011690.1:g.191845A>T , LRG_741:g.191845A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10339A>T	ENSP00000507671.1:p.Asn3447Tyr
ENST00000682801.1:c.10339A>T	ENSP00000507862.1:p.Asn3447Tyr
ENST00000682859.1:c.10339A>T	ENSP00000508222.1:p.Asn3447Tyr
ENST00000683791.1:c.3425A>T
ENST00000684460.1:c.7620A>T
ENST00000684548.1:c.10339A>T	ENSP00000507421.1:p.Asn3447Tyr
ENST00000684590.1:c.4786A>T	ENSP00000507376.1:p.Asn1596Tyr
ENST00000684656.1:c.7665A>T
ENST00000613296.6:c.10720A>T MANE Select	ENSP00000482968.1:p.Asn3574Tyr
ENST00000651057.1:c.874A>T	ENSP00000498504.1:p.Asn292Tyr
ENST00000651434.1:c.2076A>T
ENST00000651750.1:c.108A>T
ENST00000652487.1:c.1817A>T
ENST00000423048.5:c.4211A>T	ENSP00000399833.1:n.4211A>T
ENST00000484298.5:c.10594A>T	ENSP00000478155.1:p.Asn3532Tyr
ENST00000613296.4:c.10720A>T	ENSP00000482968.1:p.Asn3574Tyr
ENST00000614410.4:c.10720A>T	ENSP00000479094.1:p.Asn3574Tyr
ENST00000620466.4:n.4523A>T
NM_015120.4:c.10723A>T , LRG_741t1:c.10723A>T	NP_055935.4:p.Asn3575Tyr
NM_001378454.1:c.10720A>T MANE Select	NP_001365383.1:p.Asn3574Tyr