Canonical Allele Identifier: CA347266270

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716990A>T (hg19) ; chr2:g.73489863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489863A>T , CM000664.2:g.73489863A>T	GRCh38
NC_000002.11:g.73716990A>T , CM000664.1:g.73716990A>T	GRCh37
NC_000002.10:g.73570498A>T	NCBI36
NG_011690.1:g.109111A>T , LRG_741:g.109111A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7523A>T	ENSP00000507671.1:p.Gln2508Leu
ENST00000682801.1:c.7523A>T	ENSP00000507862.1:p.Gln2508Leu
ENST00000682859.1:c.7523A>T	ENSP00000508222.1:p.Gln2508Leu
ENST00000683791.1:c.915A>T
ENST00000684460.1:c.4975A>T
ENST00000684548.1:c.7523A>T	ENSP00000507421.1:p.Gln2508Leu
ENST00000684590.1:c.1970A>T	ENSP00000507376.1:p.Gln657Leu
ENST00000684656.1:c.4975A>T
ENST00000613296.6:c.7904A>T MANE Select	ENSP00000482968.1:p.Gln2635Leu
ENST00000651434.1:c.896-29912A>T
ENST00000423048.5:c.2735A>T	ENSP00000399833.1:p.Gln912Leu
ENST00000484298.5:c.7778A>T	ENSP00000478155.1:p.Gln2593Leu
ENST00000613296.4:c.7904A>T	ENSP00000482968.1:p.Gln2635Leu
ENST00000614410.4:c.7904A>T	ENSP00000479094.1:p.Gln2635Leu
ENST00000620466.4:n.1707A>T
NM_015120.4:c.7907A>T , LRG_741t1:c.7907A>T	NP_055935.4:p.Gln2636Leu
NM_001378454.1:c.7904A>T MANE Select	NP_001365383.1:p.Gln2635Leu