Canonical Allele Identifier: CA347276030

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677265A>T (hg19) ; chr2:g.73450138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450138A>T , CM000664.2:g.73450138A>T	GRCh38
NC_000002.11:g.73677265A>T , CM000664.1:g.73677265A>T	GRCh37
NC_000002.10:g.73530773A>T	NCBI36
NG_011690.1:g.69386A>T , LRG_741:g.69386A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3230A>T	ENSP00000507671.1:p.Gln1077Leu
ENST00000682801.1:c.3230A>T	ENSP00000507862.1:p.Gln1077Leu
ENST00000682859.1:c.3230A>T	ENSP00000508222.1:p.Gln1077Leu
ENST00000683791.1:c.685+17847A>T
ENST00000684460.1:c.682A>T
ENST00000684548.1:c.3230A>T	ENSP00000507421.1:p.Gln1077Leu
ENST00000684656.1:c.682A>T
ENST00000613296.6:c.3611A>T MANE Select	ENSP00000482968.1:p.Gln1204Leu
ENST00000484298.5:c.3485A>T	ENSP00000478155.1:p.Gln1162Leu
ENST00000613296.4:c.3611A>T	ENSP00000482968.1:p.Gln1204Leu
ENST00000614410.4:c.3611A>T	ENSP00000479094.1:p.Gln1204Leu
NM_015120.4:c.3614A>T , LRG_741t1:c.3614A>T	NP_055935.4:p.Gln1205Leu
NM_001378454.1:c.3611A>T MANE Select	NP_001365383.1:p.Gln1204Leu