Canonical Allele Identifier: CA1714348

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1053023
• ClinVar RCV Id: RCV001361309
• dbSNP Id: rs754585700
• ExAC: 2:73716866 C / T
• gnomAD v2: 2-73716866-C-T
• gnomAD v3: 2-73489739-C-T
• gnomAD v4: 2-73489739-C-T
• MyVariant Identifiers: chr2:g.73716866C>T (hg19) ; chr2:g.73489739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489739C>T , CM000664.2:g.73489739C>T	GRCh38
NC_000002.11:g.73716866C>T , CM000664.1:g.73716866C>T	GRCh37
NC_000002.10:g.73570374C>T	NCBI36
NG_011690.1:g.108987C>T , LRG_741:g.108987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7399C>T	ENSP00000507671.1:p.His2467Tyr
ENST00000682801.1:c.7399C>T	ENSP00000507862.1:p.His2467Tyr
ENST00000682859.1:c.7399C>T	ENSP00000508222.1:p.His2467Tyr
ENST00000683791.1:c.791C>T
ENST00000684460.1:c.4851C>T
ENST00000684548.1:c.7399C>T	ENSP00000507421.1:p.His2467Tyr
ENST00000684590.1:c.1846C>T	ENSP00000507376.1:p.His616Tyr
ENST00000684656.1:c.4851C>T
ENST00000613296.6:c.7780C>T MANE Select	ENSP00000482968.1:p.His2594Tyr
ENST00000651434.1:c.896-30036C>T
ENST00000423048.5:c.2611C>T	ENSP00000399833.1:p.His871Tyr
ENST00000484298.5:c.7654C>T	ENSP00000478155.1:p.His2552Tyr
ENST00000613296.4:c.7780C>T	ENSP00000482968.1:p.His2594Tyr
ENST00000614410.4:c.7780C>T	ENSP00000479094.1:p.His2594Tyr
ENST00000620466.4:n.1583C>T
NM_015120.4:c.7783C>T , LRG_741t1:c.7783C>T	NP_055935.4:p.His2595Tyr
NM_001378454.1:c.7780C>T MANE Select	NP_001365383.1:p.His2594Tyr