Canonical Allele Identifier: CA237639986

Gene: MIP

Linked Data

• dbSNP Id: rs921489538
• gnomAD v4: 12-56450301-C-A
• MyVariant Identifiers: chr12:g.56844085C>A (hg19) ; chr12:g.56450301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56450301C>A , CM000674.2:g.56450301C>A	GRCh38
NC_000012.11:g.56844085C>A , CM000674.1:g.56844085C>A	GRCh37
NC_000012.10:g.55130352C>A	NCBI36
NG_021397.1:g.9351G>T
NG_021397.2:g.23866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.*1395G>T	ENSP00000497190.1:n.*1395G>T
ENST00000652304.1:c.*979G>T MANE Select	ENSP00000498622.1:n.*979G>T
ENST00000257979.4:c.*979G>T	ENSP00000257979.4:n.*979G>T
NM_012064.3:c.*979G>T	NP_036196.1:n.*979G>T
XM_011538354.1:c.*979G>T	XP_011536656.1:n.*979G>T
NM_012064.4:c.*979G>T MANE Select	NP_036196.1:n.*979G>T
XM_017019306.1:c.*979G>T	XP_016874795.1:n.*979G>T