Canonical Allele Identifier: CA347267780

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1762325
• ClinVar RCV Id: RCV002427821
• MyVariant Identifiers: chr2:g.73717268A>C (hg19) ; chr2:g.73490141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490141A>C , CM000664.2:g.73490141A>C	GRCh38
NC_000002.11:g.73717268A>C , CM000664.1:g.73717268A>C	GRCh37
NC_000002.10:g.73570776A>C	NCBI36
NG_011690.1:g.109389A>C , LRG_741:g.109389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7801A>C	ENSP00000507671.1:p.Asn2601His
ENST00000682801.1:c.7801A>C	ENSP00000507862.1:p.Asn2601His
ENST00000682859.1:c.7801A>C	ENSP00000508222.1:p.Asn2601His
ENST00000683791.1:c.1193A>C
ENST00000684460.1:c.5253A>C
ENST00000684548.1:c.7801A>C	ENSP00000507421.1:p.Asn2601His
ENST00000684590.1:c.2248A>C	ENSP00000507376.1:p.Asn750His
ENST00000684656.1:c.5253A>C
ENST00000613296.6:c.8182A>C MANE Select	ENSP00000482968.1:p.Asn2728His
ENST00000651434.1:c.896-29634A>C
ENST00000423048.5:c.3013A>C	ENSP00000399833.1:p.Asn1005His
ENST00000484298.5:c.8056A>C	ENSP00000478155.1:p.Asn2686His
ENST00000613296.4:c.8182A>C	ENSP00000482968.1:p.Asn2728His
ENST00000614410.4:c.8182A>C	ENSP00000479094.1:p.Asn2728His
ENST00000620466.4:n.1985A>C
NM_015120.4:c.8185A>C , LRG_741t1:c.8185A>C	NP_055935.4:p.Asn2729His
NM_001378454.1:c.8182A>C MANE Select	NP_001365383.1:p.Asn2728His