Canonical Allele Identifier: CA347283331

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799518T>C (hg19) ; chr2:g.73572391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572391T>C , CM000664.2:g.73572391T>C	GRCh38
NC_000002.11:g.73799518T>C , CM000664.1:g.73799518T>C	GRCh37
NC_000002.10:g.73653026T>C	NCBI36
NG_011690.1:g.191639T>C , LRG_741:g.191639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10133T>C	ENSP00000507671.1:p.Val3378Ala
ENST00000682801.1:c.10133T>C	ENSP00000507862.1:p.Val3378Ala
ENST00000682859.1:c.10133T>C	ENSP00000508222.1:p.Val3378Ala
ENST00000683791.1:c.3219T>C
ENST00000684460.1:c.7414T>C
ENST00000684548.1:c.10133T>C	ENSP00000507421.1:p.Val3378Ala
ENST00000684590.1:c.4580T>C	ENSP00000507376.1:p.Val1527Ala
ENST00000684656.1:c.7459T>C
ENST00000613296.6:c.10514T>C MANE Select	ENSP00000482968.1:p.Val3505Ala
ENST00000651057.1:c.668T>C	ENSP00000498504.1:p.Val223Ala
ENST00000651434.1:c.1870T>C
ENST00000652487.1:c.1611T>C
ENST00000423048.5:c.4005T>C	ENSP00000399833.1:n.4005T>C
ENST00000484298.5:c.10388T>C	ENSP00000478155.1:p.Val3463Ala
ENST00000613296.4:c.10514T>C	ENSP00000482968.1:p.Val3505Ala
ENST00000614410.4:c.10514T>C	ENSP00000479094.1:p.Val3505Ala
ENST00000620466.4:n.4317T>C
NM_015120.4:c.10517T>C , LRG_741t1:c.10517T>C	NP_055935.4:p.Val3506Ala
NM_001378454.1:c.10514T>C MANE Select	NP_001365383.1:p.Val3505Ala