Canonical Allele Identifier: CA10636915

Gene: MGP C12orf60

Linked Data

• ClinVar Variation Id: 307776
• ClinVar RCV Id: RCV000335996 ; RCV001514055
• dbSNP Id: rs1800801
• gnomAD v2: 12-15038788-C-T
• gnomAD v3: 12-14885854-C-T
• gnomAD v4: 12-14885854-C-T
• MyVariant Identifiers: chr12:g.15038788C>T (hg19) ; chr12:g.14885854C>T (hg38)
• PubMed: PMID:11073842

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14885854C>T , CM000674.2:g.14885854C>T	GRCh38
NC_000012.11:g.15038788C>T , CM000674.1:g.15038788C>T	GRCh37
NC_000012.10:g.14930055C>T	NCBI36
NG_023331.1:g.5066G>A
NG_023331.2:g.5066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539261.6:c.-63G>A (MGP) MANE Select	ENSP00000445907.1:n.-63G>A
ENST00000648334.1:n.126-18153C>T (C12orf60)
ENST00000228938.5:c.-63G>A (MGP)	ENSP00000228938.5:n.-63G>A
ENST00000507170.2:n.1G>A (MGP)
ENST00000527783.1:n.76-13315C>T (C12orf60)
ENST00000533472.1:n.87-18153C>T (C12orf60)
ENST00000539261.5:c.-63G>A (MGP)	ENSP00000445907.1:n.-63G>A
ENST00000543822.1:n.91+48C>T (C12orf60)
NM_000900.3:c.-63G>A (MGP)	NP_000891.2:n.-63G>A
NM_001190839.1:c.-63G>A (MGP)	NP_001177768.1:n.-63G>A
NM_000900.4:c.-63G>A (MGP)	NP_000891.2:n.-63G>A
NM_001190839.2:c.-63G>A (MGP)	NP_001177768.1:n.-63G>A
NM_000900.5:c.-63G>A (MGP) MANE Select	NP_000891.2:n.-63G>A
NM_001190839.3:c.-63G>A (MGP)	NP_001177768.1:n.-63G>A