Canonical Allele Identifier: CA427024136

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2861315
• ClinVar RCV Id: RCV003609087
• MyVariant Identifiers: chr2:g.73799942C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572815C>T , CM000664.2:g.73572815C>T	GRCh38
NC_000002.11:g.73799942C>T , CM000664.1:g.73799942C>T	GRCh37
NC_000002.10:g.73653450C>T	NCBI36
NG_011690.1:g.192063C>T , LRG_741:g.192063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10557C>T	ENSP00000507671.1:p.Val3519=
ENST00000682801.1:c.10557C>T	ENSP00000507862.1:p.Val3519=
ENST00000682859.1:c.10557C>T	ENSP00000508222.1:p.Val3519=
ENST00000683791.1:c.3643C>T
ENST00000684460.1:c.7838C>T
ENST00000684548.1:c.10557C>T	ENSP00000507421.1:p.Val3519=
ENST00000684590.1:c.5004C>T	ENSP00000507376.1:p.Val1668=
ENST00000684656.1:c.7883C>T
ENST00000613296.6:c.10938C>T MANE Select	ENSP00000482968.1:p.Val3646=
ENST00000651057.1:c.1092C>T	ENSP00000498504.1:p.Val364=
ENST00000651434.1:c.2294C>T
ENST00000651750.1:c.326C>T
ENST00000652487.1:c.2035C>T
ENST00000423048.5:c.4429C>T	ENSP00000399833.1:n.4429C>T
ENST00000484298.5:c.10812C>T	ENSP00000478155.1:p.Val3604=
ENST00000613296.4:c.10938C>T	ENSP00000482968.1:p.Val3646=
ENST00000614410.4:c.10938C>T	ENSP00000479094.1:p.Val3646=
ENST00000620466.4:n.4741C>T
NM_015120.4:c.10941C>T , LRG_741t1:c.10941C>T	NP_055935.4:p.Val3647=
NM_001378454.1:c.10938C>T MANE Select	NP_001365383.1:p.Val3646=