Canonical Allele Identifier: CA347276138

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677306G>A (hg19) ; chr2:g.73450179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450179G>A , CM000664.2:g.73450179G>A	GRCh38
NC_000002.11:g.73677306G>A , CM000664.1:g.73677306G>A	GRCh37
NC_000002.10:g.73530814G>A	NCBI36
NG_011690.1:g.69427G>A , LRG_741:g.69427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3271G>A	ENSP00000507671.1:p.Val1091Ile
ENST00000682801.1:c.3271G>A	ENSP00000507862.1:p.Val1091Ile
ENST00000682859.1:c.3271G>A	ENSP00000508222.1:p.Val1091Ile
ENST00000683791.1:c.685+17888G>A
ENST00000684460.1:c.723G>A
ENST00000684548.1:c.3271G>A	ENSP00000507421.1:p.Val1091Ile
ENST00000684656.1:c.723G>A
ENST00000613296.6:c.3652G>A MANE Select	ENSP00000482968.1:p.Val1218Ile
ENST00000484298.5:c.3526G>A	ENSP00000478155.1:p.Val1176Ile
ENST00000613296.4:c.3652G>A	ENSP00000482968.1:p.Val1218Ile
ENST00000614410.4:c.3652G>A	ENSP00000479094.1:p.Val1218Ile
NM_015120.4:c.3655G>A , LRG_741t1:c.3655G>A	NP_055935.4:p.Val1219Ile
NM_001378454.1:c.3652G>A MANE Select	NP_001365383.1:p.Val1218Ile