Canonical Allele Identifier: CA347263899

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1760275
• ClinVar RCV Id: RCV002400651
• MyVariant Identifiers: chr2:g.73716795C>T (hg19) ; chr2:g.73489668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489668C>T , CM000664.2:g.73489668C>T	GRCh38
NC_000002.11:g.73716795C>T , CM000664.1:g.73716795C>T	GRCh37
NC_000002.10:g.73570303C>T	NCBI36
NG_011690.1:g.108916C>T , LRG_741:g.108916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7328C>T	ENSP00000507671.1:p.Pro2443Leu
ENST00000682801.1:c.7328C>T	ENSP00000507862.1:p.Pro2443Leu
ENST00000682859.1:c.7328C>T	ENSP00000508222.1:p.Pro2443Leu
ENST00000683791.1:c.720C>T
ENST00000684460.1:c.4780C>T
ENST00000684548.1:c.7328C>T	ENSP00000507421.1:p.Pro2443Leu
ENST00000684590.1:c.1775C>T	ENSP00000507376.1:p.Pro592Leu
ENST00000684656.1:c.4780C>T
ENST00000613296.6:c.7709C>T MANE Select	ENSP00000482968.1:p.Pro2570Leu
ENST00000651434.1:c.896-30107C>T
ENST00000423048.5:c.2540C>T	ENSP00000399833.1:p.Pro847Leu
ENST00000484298.5:c.7583C>T	ENSP00000478155.1:p.Pro2528Leu
ENST00000613296.4:c.7709C>T	ENSP00000482968.1:p.Pro2570Leu
ENST00000614410.4:c.7709C>T	ENSP00000479094.1:p.Pro2570Leu
ENST00000620466.4:n.1512C>T
NM_015120.4:c.7712C>T , LRG_741t1:c.7712C>T	NP_055935.4:p.Pro2571Leu
NM_001378454.1:c.7709C>T MANE Select	NP_001365383.1:p.Pro2570Leu