Canonical Allele Identifier: CA482450427

Gene: MTRFR CDK2AP1

Linked Data

• ClinVar Variation Id: 758815
• ClinVar RCV Id: RCV000936571
• dbSNP Id: rs1368612421
• gnomAD v4: 12-123256974-C-T
• MyVariant Identifiers: chr12:g.123741521C>T (hg19) ; chr12:g.123256974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123256974C>T , CM000674.2:g.123256974C>T	GRCh38
NC_000012.11:g.123741521C>T , CM000674.1:g.123741521C>T	GRCh37
NC_000012.10:g.122307474C>T	NCBI36
NG_027517.1:g.28678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253233.6:c.444C>T (MTRFR) MANE Select	ENSP00000253233.1:p.Thr148=
ENST00000366329.7:c.444C>T (MTRFR)	ENSP00000390647.1:p.Thr148=
ENST00000425637.3:c.*1161C>T (MTRFR)	ENSP00000506680.1:n.*1161C>T
ENST00000536130.2:c.444C>T (MTRFR)	ENSP00000443072.2:p.Thr148=
ENST00000538888.6:c.*327C>T (MTRFR)	ENSP00000505059.1:n.*327C>T
ENST00000541002.7:n.809+2069G>A
ENST00000543139.2:c.444C>T (MTRFR)	ENSP00000444843.2:p.Thr148=
ENST00000543217.6:n.280+2069G>A
ENST00000652466.1:c.*955+3300G>A (CDK2AP1)	ENSP00000498286.1:n.*955+3300G>A
ENST00000679849.1:c.444C>T (MTRFR)	ENSP00000505808.1:p.Thr148=
ENST00000680325.1:c.*832C>T (MTRFR)	ENSP00000505277.1:n.*832C>T
ENST00000253233.5:c.444C>T (MTRFR)	ENSP00000253233.1:p.Thr148=
ENST00000366329.6:c.444C>T (MTRFR)	ENSP00000390647.1:p.Thr148=
ENST00000429587.2:c.444C>T (MTRFR)	ENSP00000391513.2:p.Thr148=
NM_001143905.2:c.444C>T (MTRFR)	NP_001137377.1:p.Thr148=
NM_001194995.1:c.444C>T (MTRFR)	NP_001181924.1:p.Thr148=
NM_152269.4:c.444C>T (MTRFR)	NP_689482.1:p.Thr148=
XM_005253630.3:c.444C>T (MTRFR)	XP_005253687.1:p.Thr148=
XM_011538980.1:c.444C>T (MTRFR)	XP_011537282.1:p.Thr148=
XM_011538981.1:c.444C>T (MTRFR)	XP_011537283.1:p.Thr148=
XM_011538982.1:c.444C>T (MTRFR)	XP_011537284.1:p.Thr148=
XR_945472.1:n.186+2069G>A
XM_005253630.4:c.444C>T (MTRFR)	XP_005253687.1:p.Thr148=
XM_011538980.3:c.444C>T (MTRFR)	XP_011537282.1:p.Thr148=
XM_024449273.1:c.444C>T (MTRFR)	XP_024305041.1:p.Thr148=
NM_152269.5:c.444C>T (MTRFR) MANE Select	NP_689482.1:p.Thr148=