Canonical Allele Identifier: CA347266092

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716957C>T (hg19) ; chr2:g.73489830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489830C>T , CM000664.2:g.73489830C>T	GRCh38
NC_000002.11:g.73716957C>T , CM000664.1:g.73716957C>T	GRCh37
NC_000002.10:g.73570465C>T	NCBI36
NG_011690.1:g.109078C>T , LRG_741:g.109078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7490C>T	ENSP00000507671.1:p.Ala2497Val
ENST00000682801.1:c.7490C>T	ENSP00000507862.1:p.Ala2497Val
ENST00000682859.1:c.7490C>T	ENSP00000508222.1:p.Ala2497Val
ENST00000683791.1:c.882C>T
ENST00000684460.1:c.4942C>T
ENST00000684548.1:c.7490C>T	ENSP00000507421.1:p.Ala2497Val
ENST00000684590.1:c.1937C>T	ENSP00000507376.1:p.Ala646Val
ENST00000684656.1:c.4942C>T
ENST00000613296.6:c.7871C>T MANE Select	ENSP00000482968.1:p.Ala2624Val
ENST00000651434.1:c.896-29945C>T
ENST00000423048.5:c.2702C>T	ENSP00000399833.1:p.Ala901Val
ENST00000484298.5:c.7745C>T	ENSP00000478155.1:p.Ala2582Val
ENST00000613296.4:c.7871C>T	ENSP00000482968.1:p.Ala2624Val
ENST00000614410.4:c.7871C>T	ENSP00000479094.1:p.Ala2624Val
ENST00000620466.4:n.1674C>T
NM_015120.4:c.7874C>T , LRG_741t1:c.7874C>T	NP_055935.4:p.Ala2625Val
NM_001378454.1:c.7871C>T MANE Select	NP_001365383.1:p.Ala2624Val