Canonical Allele Identifier: CA237640031

Gene: MIP

Linked Data

• dbSNP Id: rs934443898
• gnomAD v3: 12-56450326-G-A
• gnomAD v4: 12-56450326-G-A
• MyVariant Identifiers: chr12:g.56844110G>A (hg19) ; chr12:g.56450326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56450326G>A , CM000674.2:g.56450326G>A	GRCh38
NC_000012.11:g.56844110G>A , CM000674.1:g.56844110G>A	GRCh37
NC_000012.10:g.55130377G>A	NCBI36
NG_021397.1:g.9326C>T
NG_021397.2:g.23841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.*1370C>T	ENSP00000497190.1:n.*1370C>T
ENST00000652304.1:c.*954C>T MANE Select	ENSP00000498622.1:n.*954C>T
ENST00000257979.4:c.*954C>T	ENSP00000257979.4:n.*954C>T
NM_012064.3:c.*954C>T	NP_036196.1:n.*954C>T
XM_011538354.1:c.*954C>T	XP_011536656.1:n.*954C>T
NM_012064.4:c.*954C>T MANE Select	NP_036196.1:n.*954C>T
XM_017019306.1:c.*954C>T	XP_016874795.1:n.*954C>T