Canonical Allele Identifier: CA347283561

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799552G>T (hg19) ; chr2:g.73572425G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572425G>T , CM000664.2:g.73572425G>T	GRCh38
NC_000002.11:g.73799552G>T , CM000664.1:g.73799552G>T	GRCh37
NC_000002.10:g.73653060G>T	NCBI36
NG_011690.1:g.191673G>T , LRG_741:g.191673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10167G>T	ENSP00000507671.1:p.Gln3389His
ENST00000682801.1:c.10167G>T	ENSP00000507862.1:p.Gln3389His
ENST00000682859.1:c.10167G>T	ENSP00000508222.1:p.Gln3389His
ENST00000683791.1:c.3253G>T
ENST00000684460.1:c.7448G>T
ENST00000684548.1:c.10167G>T	ENSP00000507421.1:p.Gln3389His
ENST00000684590.1:c.4614G>T	ENSP00000507376.1:p.Gln1538His
ENST00000684656.1:c.7493G>T
ENST00000613296.6:c.10548G>T MANE Select	ENSP00000482968.1:p.Gln3516His
ENST00000651057.1:c.702G>T	ENSP00000498504.1:p.Gln234His
ENST00000651434.1:c.1904G>T
ENST00000652487.1:c.1645G>T
ENST00000423048.5:c.4039G>T	ENSP00000399833.1:n.4039G>T
ENST00000484298.5:c.10422G>T	ENSP00000478155.1:p.Gln3474His
ENST00000613296.4:c.10548G>T	ENSP00000482968.1:p.Gln3516His
ENST00000614410.4:c.10548G>T	ENSP00000479094.1:p.Gln3516His
ENST00000620466.4:n.4351G>T
NM_015120.4:c.10551G>T , LRG_741t1:c.10551G>T	NP_055935.4:p.Gln3517His
NM_001378454.1:c.10548G>T MANE Select	NP_001365383.1:p.Gln3516His