Canonical Allele Identifier: CA73493535

Gene: MYRIP

Linked Data

• dbSNP Id: rs1002352882
• gnomAD v2: 3-40008667-A-G
• gnomAD v3: 3-39967176-A-G
• gnomAD v4: 3-39967176-A-G
• MyVariant Identifiers: chr3:g.40008667A>G (hg19) ; chr3:g.39967176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39967176A>G , CM000665.2:g.39967176A>G	GRCh38
NC_000003.11:g.40008667A>G , CM000665.1:g.40008667A>G	GRCh37
NC_000003.10:g.39983671A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000302541.11:c.110+66250A>G MANE Select	ENSP00000301972.6:n.110+66250A>G
ENST00000302541.10:c.110+66250A>G	ENSP00000301972.6:n.110+66250A>G
ENST00000396217.7:c.-21+66250A>G	ENSP00000379519.3:n.-21+66250A>G
ENST00000425621.5:c.110+66250A>G	ENSP00000389323.1:n.110+66250A>G
ENST00000444716.5:c.110+66250A>G	ENSP00000398665.1:n.110+66250A>G
ENST00000458292.5:c.110+66250A>G	ENSP00000413392.1:n.110+66250A>G
ENST00000458441.5:c.110+66250A>G	ENSP00000400916.1:n.110+66250A>G
ENST00000475082.5:n.369+66250A>G
NM_001284423.1:c.110+66250A>G	NP_001271352.1:n.110+66250A>G
NM_001284424.1:c.110+66250A>G	NP_001271353.1:n.110+66250A>G
NM_001284425.1:c.-21+66250A>G	NP_001271354.1:n.-21+66250A>G
NM_015460.3:c.110+66250A>G	NP_056275.2:n.110+66250A>G
NR_104316.1:n.397+66250A>G
XM_011533575.1:c.110+66250A>G	XP_011531877.1:n.110+66250A>G
NM_015460.4:c.110+66250A>G MANE Select	NP_056275.2:n.110+66250A>G
NM_001284424.2:c.110+66250A>G	NP_001271353.1:n.110+66250A>G
NR_104316.2:n.448+66250A>G
NM_001284423.2:c.110+66250A>G	NP_001271352.1:n.110+66250A>G
NM_001284425.2:c.-21+66250A>G	NP_001271354.1:n.-21+66250A>G