Canonical Allele Identifier: CA50377591

Gene: ALMS1

Linked Data

• dbSNP Id: rs894166137
• gnomAD v3: 2-73489827-G-T
• gnomAD v4: 2-73489827-G-T
• MyVariant Identifiers: chr2:g.73716954G>T (hg19) ; chr2:g.73489827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489827G>T , CM000664.2:g.73489827G>T	GRCh38
NC_000002.11:g.73716954G>T , CM000664.1:g.73716954G>T	GRCh37
NC_000002.10:g.73570462G>T	NCBI36
NG_011690.1:g.109075G>T , LRG_741:g.109075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7487G>T	ENSP00000507671.1:p.Arg2496Ile
ENST00000682801.1:c.7487G>T	ENSP00000507862.1:p.Arg2496Ile
ENST00000682859.1:c.7487G>T	ENSP00000508222.1:p.Arg2496Ile
ENST00000683791.1:c.879G>T
ENST00000684460.1:c.4939G>T
ENST00000684548.1:c.7487G>T	ENSP00000507421.1:p.Arg2496Ile
ENST00000684590.1:c.1934G>T	ENSP00000507376.1:p.Arg645Ile
ENST00000684656.1:c.4939G>T
ENST00000613296.6:c.7868G>T MANE Select	ENSP00000482968.1:p.Arg2623Ile
ENST00000651434.1:c.896-29948G>T
ENST00000423048.5:c.2699G>T	ENSP00000399833.1:p.Arg900Ile
ENST00000484298.5:c.7742G>T	ENSP00000478155.1:p.Arg2581Ile
ENST00000613296.4:c.7868G>T	ENSP00000482968.1:p.Arg2623Ile
ENST00000614410.4:c.7868G>T	ENSP00000479094.1:p.Arg2623Ile
ENST00000620466.4:n.1671G>T
NM_015120.4:c.7871G>T , LRG_741t1:c.7871G>T	NP_055935.4:p.Arg2624Ile
NM_001378454.1:c.7868G>T MANE Select	NP_001365383.1:p.Arg2623Ile