Canonical Allele Identifier: CA347263944

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716816T>A (hg19) ; chr2:g.73489689T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489689T>A , CM000664.2:g.73489689T>A	GRCh38
NC_000002.11:g.73716816T>A , CM000664.1:g.73716816T>A	GRCh37
NC_000002.10:g.73570324T>A	NCBI36
NG_011690.1:g.108937T>A , LRG_741:g.108937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7349T>A	ENSP00000507671.1:p.Ile2450Asn
ENST00000682801.1:c.7349T>A	ENSP00000507862.1:p.Ile2450Asn
ENST00000682859.1:c.7349T>A	ENSP00000508222.1:p.Ile2450Asn
ENST00000683791.1:c.741T>A
ENST00000684460.1:c.4801T>A
ENST00000684548.1:c.7349T>A	ENSP00000507421.1:p.Ile2450Asn
ENST00000684590.1:c.1796T>A	ENSP00000507376.1:p.Ile599Asn
ENST00000684656.1:c.4801T>A
ENST00000613296.6:c.7730T>A MANE Select	ENSP00000482968.1:p.Ile2577Asn
ENST00000651434.1:c.896-30086T>A
ENST00000423048.5:c.2561T>A	ENSP00000399833.1:p.Ile854Asn
ENST00000484298.5:c.7604T>A	ENSP00000478155.1:p.Ile2535Asn
ENST00000613296.4:c.7730T>A	ENSP00000482968.1:p.Ile2577Asn
ENST00000614410.4:c.7730T>A	ENSP00000479094.1:p.Ile2577Asn
ENST00000620466.4:n.1533T>A
NM_015120.4:c.7733T>A , LRG_741t1:c.7733T>A	NP_055935.4:p.Ile2578Asn
NM_001378454.1:c.7730T>A MANE Select	NP_001365383.1:p.Ile2577Asn