Canonical Allele Identifier: CA427000774

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717159T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490032T>G , CM000664.2:g.73490032T>G	GRCh38
NC_000002.11:g.73717159T>G , CM000664.1:g.73717159T>G	GRCh37
NC_000002.10:g.73570667T>G	NCBI36
NG_011690.1:g.109280T>G , LRG_741:g.109280T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7692T>G	ENSP00000507671.1:p.Pro2564=
ENST00000682801.1:c.7692T>G	ENSP00000507862.1:p.Pro2564=
ENST00000682859.1:c.7692T>G	ENSP00000508222.1:p.Pro2564=
ENST00000683791.1:c.1084T>G
ENST00000684460.1:c.5144T>G
ENST00000684548.1:c.7692T>G	ENSP00000507421.1:p.Pro2564=
ENST00000684590.1:c.2139T>G	ENSP00000507376.1:p.Pro713=
ENST00000684656.1:c.5144T>G
ENST00000613296.6:c.8073T>G MANE Select	ENSP00000482968.1:p.Pro2691=
ENST00000651434.1:c.896-29743T>G
ENST00000423048.5:c.2904T>G	ENSP00000399833.1:p.Pro968=
ENST00000484298.5:c.7947T>G	ENSP00000478155.1:p.Pro2649=
ENST00000613296.4:c.8073T>G	ENSP00000482968.1:p.Pro2691=
ENST00000614410.4:c.8073T>G	ENSP00000479094.1:p.Pro2691=
ENST00000620466.4:n.1876T>G
NM_015120.4:c.8076T>G , LRG_741t1:c.8076T>G	NP_055935.4:p.Pro2692=
NM_001378454.1:c.8073T>G MANE Select	NP_001365383.1:p.Pro2691=