Canonical Allele Identifier: CA347266482

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828468C>T (hg19) ; chr2:g.73601341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601341C>T , CM000664.2:g.73601341C>T	GRCh38
NC_000002.11:g.73828468C>T , CM000664.1:g.73828468C>T	GRCh37
NC_000002.10:g.73681976C>T	NCBI36
NG_011690.1:g.220589C>T , LRG_741:g.220589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11638C>T	ENSP00000507671.1:p.Gln3880Ter
ENST00000682801.1:c.11167-844C>T	ENSP00000507862.1:n.11167-844C>T
ENST00000682859.1:c.11638C>T	ENSP00000508222.1:p.Gln3880Ter
ENST00000683791.1:c.4724C>T
ENST00000684460.1:c.8919C>T
ENST00000684548.1:c.11638C>T	ENSP00000507421.1:p.Gln3880Ter
ENST00000684590.1:c.6085C>T	ENSP00000507376.1:p.Gln2029Ter
ENST00000684656.1:c.9103C>T
ENST00000613296.6:c.12019C>T MANE Select	ENSP00000482968.1:p.Gln4007Ter
ENST00000651057.1:c.2173C>T	ENSP00000498504.1:p.Gln725Ter
ENST00000651434.1:c.3375C>T
ENST00000651750.1:c.1260+460C>T
ENST00000652487.1:c.3190C>T
ENST00000464408.3:n.194C>T
ENST00000484298.5:c.11893C>T	ENSP00000478155.1:p.Gln3965Ter
ENST00000613296.4:c.12019C>T	ENSP00000482968.1:p.Gln4007Ter
ENST00000620466.4:n.5822C>T
NM_015120.4:c.12022C>T , LRG_741t1:c.12022C>T	NP_055935.4:p.Gln4008Ter
NM_001378454.1:c.12019C>T MANE Select	NP_001365383.1:p.Gln4007Ter