Canonical Allele Identifier: CA347267164

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828547T>C (hg19) ; chr2:g.73601420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601420T>C , CM000664.2:g.73601420T>C	GRCh38
NC_000002.11:g.73828547T>C , CM000664.1:g.73828547T>C	GRCh37
NC_000002.10:g.73682055T>C	NCBI36
NG_011690.1:g.220668T>C , LRG_741:g.220668T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11717T>C	ENSP00000507671.1:p.Val3906Ala
ENST00000682801.1:c.11167-765T>C	ENSP00000507862.1:n.11167-765T>C
ENST00000682859.1:c.11717T>C	ENSP00000508222.1:p.Val3906Ala
ENST00000683791.1:c.4803T>C
ENST00000684460.1:c.8998T>C
ENST00000684548.1:c.11717T>C	ENSP00000507421.1:p.Val3906Ala
ENST00000684590.1:c.6164T>C	ENSP00000507376.1:p.Val2055Ala
ENST00000684656.1:c.9182T>C
ENST00000613296.6:c.12098T>C MANE Select	ENSP00000482968.1:p.Val4033Ala
ENST00000651057.1:c.2252T>C	ENSP00000498504.1:p.Val751Ala
ENST00000651434.1:c.3454T>C
ENST00000651750.1:c.1260+539T>C
ENST00000652487.1:c.3269T>C
ENST00000464408.3:n.273T>C
ENST00000484298.5:c.11972T>C	ENSP00000478155.1:p.Val3991Ala
ENST00000613296.4:c.12098T>C	ENSP00000482968.1:p.Val4033Ala
ENST00000620466.4:n.5901T>C
NM_015120.4:c.12101T>C , LRG_741t1:c.12101T>C	NP_055935.4:p.Val4034Ala
NM_001378454.1:c.12098T>C MANE Select	NP_001365383.1:p.Val4033Ala