Canonical Allele Identifier: CA347264049

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716866C>A (hg19) ; chr2:g.73489739C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7399C>A	ENSP00000507671.1:p.His2467Asn
ENST00000682801.1:c.7399C>A	ENSP00000507862.1:p.His2467Asn
ENST00000682859.1:c.7399C>A	ENSP00000508222.1:p.His2467Asn
ENST00000683791.1:c.791C>A
ENST00000684460.1:c.4851C>A
ENST00000684548.1:c.7399C>A	ENSP00000507421.1:p.His2467Asn
ENST00000684590.1:c.1846C>A	ENSP00000507376.1:p.His616Asn
ENST00000684656.1:c.4851C>A
ENST00000613296.6:c.7780C>A MANE Select	ENSP00000482968.1:p.His2594Asn
ENST00000651434.1:c.896-30036C>A
ENST00000423048.5:c.2611C>A	ENSP00000399833.1:p.His871Asn
ENST00000484298.5:c.7654C>A	ENSP00000478155.1:p.His2552Asn
ENST00000613296.4:c.7780C>A	ENSP00000482968.1:p.His2594Asn
ENST00000614410.4:c.7780C>A	ENSP00000479094.1:p.His2594Asn
ENST00000620466.4:n.1583C>A
NM_015120.4:c.7783C>A , LRG_741t1:c.7783C>A	NP_055935.4:p.His2595Asn
NM_001378454.1:c.7780C>A MANE Select	NP_001365383.1:p.His2594Asn