Canonical Allele Identifier: CA347285828

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799848C>G (hg19) ; chr2:g.73572721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572721C>G , CM000664.2:g.73572721C>G	GRCh38
NC_000002.11:g.73799848C>G , CM000664.1:g.73799848C>G	GRCh37
NC_000002.10:g.73653356C>G	NCBI36
NG_011690.1:g.191969C>G , LRG_741:g.191969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10463C>G	ENSP00000507671.1:p.Pro3488Arg
ENST00000682801.1:c.10463C>G	ENSP00000507862.1:p.Pro3488Arg
ENST00000682859.1:c.10463C>G	ENSP00000508222.1:p.Pro3488Arg
ENST00000683791.1:c.3549C>G
ENST00000684460.1:c.7744C>G
ENST00000684548.1:c.10463C>G	ENSP00000507421.1:p.Pro3488Arg
ENST00000684590.1:c.4910C>G	ENSP00000507376.1:p.Pro1637Arg
ENST00000684656.1:c.7789C>G
ENST00000613296.6:c.10844C>G MANE Select	ENSP00000482968.1:p.Pro3615Arg
ENST00000651057.1:c.998C>G	ENSP00000498504.1:p.Pro333Arg
ENST00000651434.1:c.2200C>G
ENST00000651750.1:c.232C>G
ENST00000652487.1:c.1941C>G
ENST00000423048.5:c.4335C>G	ENSP00000399833.1:n.4335C>G
ENST00000484298.5:c.10718C>G	ENSP00000478155.1:p.Pro3573Arg
ENST00000613296.4:c.10844C>G	ENSP00000482968.1:p.Pro3615Arg
ENST00000614410.4:c.10844C>G	ENSP00000479094.1:p.Pro3615Arg
ENST00000620466.4:n.4647C>G
NM_015120.4:c.10847C>G , LRG_741t1:c.10847C>G	NP_055935.4:p.Pro3616Arg
NM_001378454.1:c.10844C>G MANE Select	NP_001365383.1:p.Pro3615Arg