Canonical Allele Identifier: CA347286307

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572814-T-C
• MyVariant Identifiers: chr2:g.73799941T>C (hg19) ; chr2:g.73572814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572814T>C , CM000664.2:g.73572814T>C	GRCh38
NC_000002.11:g.73799941T>C , CM000664.1:g.73799941T>C	GRCh37
NC_000002.10:g.73653449T>C	NCBI36
NG_011690.1:g.192062T>C , LRG_741:g.192062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10556T>C	ENSP00000507671.1:p.Val3519Ala
ENST00000682801.1:c.10556T>C	ENSP00000507862.1:p.Val3519Ala
ENST00000682859.1:c.10556T>C	ENSP00000508222.1:p.Val3519Ala
ENST00000683791.1:c.3642T>C
ENST00000684460.1:c.7837T>C
ENST00000684548.1:c.10556T>C	ENSP00000507421.1:p.Val3519Ala
ENST00000684590.1:c.5003T>C	ENSP00000507376.1:p.Val1668Ala
ENST00000684656.1:c.7882T>C
ENST00000613296.6:c.10937T>C MANE Select	ENSP00000482968.1:p.Val3646Ala
ENST00000651057.1:c.1091T>C	ENSP00000498504.1:p.Val364Ala
ENST00000651434.1:c.2293T>C
ENST00000651750.1:c.325T>C
ENST00000652487.1:c.2034T>C
ENST00000423048.5:c.4428T>C	ENSP00000399833.1:n.4428T>C
ENST00000484298.5:c.10811T>C	ENSP00000478155.1:p.Val3604Ala
ENST00000613296.4:c.10937T>C	ENSP00000482968.1:p.Val3646Ala
ENST00000614410.4:c.10937T>C	ENSP00000479094.1:p.Val3646Ala
ENST00000620466.4:n.4740T>C
NM_015120.4:c.10940T>C , LRG_741t1:c.10940T>C	NP_055935.4:p.Val3647Ala
NM_001378454.1:c.10937T>C MANE Select	NP_001365383.1:p.Val3646Ala