Canonical Allele Identifier: CA10638145
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 309866
ClinVar RCV Id: RCV000375803
dbSNP Id: rs2371455
gnomAD v2: 12-56843893-G-T
gnomAD v3: 12-56450109-G-T
gnomAD v4: 12-56450109-G-T
MyVariant Identifiers: chr12:g.56843893G>T (hg19) chr12:g.56450109G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450109G>T , CM000674.2:g.56450109G>T GRCh38
NC_000012.11:g.56843893G>T , CM000674.1:g.56843893G>T GRCh37
NC_000012.10:g.55130160G>T NCBI36
NG_021397.1:g.9543C>A
NG_021397.2:g.24058C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000648304.1:c.*1587C>A ENSP00000497190.1:n.*1587C>A
ENST00000652304.1:c.*1171C>A MANE Select ENSP00000498622.1:n.*1171C>A
ENST00000257979.4:c.*1171C>A ENSP00000257979.4:n.*1171C>A
NM_012064.3:c.*1171C>A NP_036196.1:n.*1171C>A
XM_011538354.1:c.*1171C>A XP_011536656.1:n.*1171C>A
NM_012064.4:c.*1171C>A MANE Select NP_036196.1:n.*1171C>A
XM_017019306.1:c.*1171C>A XP_016874795.1:n.*1171C>A
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