Canonical Allele Identifier: CA16102327

Gene: M1AP

Linked Data

• dbSNP Id: rs11126435
• gnomAD v2: 2-74789700-A-T
• gnomAD v3: 2-74562573-A-T
• gnomAD v4: 2-74562573-A-T
• MyVariant Identifiers: chr2:g.74789700A>T (hg19) ; chr2:g.74562573A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74562573A>T , CM000664.2:g.74562573A>T	GRCh38
NC_000002.11:g.74789700A>T , CM000664.1:g.74789700A>T	GRCh37
NC_000002.10:g.74643208A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000421985.2:c.1075-150T>A MANE Select	ENSP00000414882.2:n.1075-150T>A
ENST00000290536.9:c.1075-150T>A	ENSP00000290536.5:n.1075-150T>A
ENST00000409585.5:c.1075-150T>A	ENSP00000386793.1:n.1075-150T>A
ENST00000464686.5:n.361-150T>A
ENST00000485997.1:n.53-3699T>A
ENST00000536235.5:c.1075-150T>A	ENSP00000445662.1:n.1075-150T>A
NM_001281296.1:c.1075-150T>A	NP_001268225.1:n.1075-150T>A
NM_138804.4:c.1075-150T>A	NP_620159.2:n.1075-150T>A
XM_005264150.3:c.1144-150T>A	XP_005264207.1:n.1144-150T>A
XM_005264152.2:c.343-150T>A	XP_005264209.1:n.343-150T>A
XM_006711946.2:c.1189-150T>A	XP_006712009.1:n.1189-150T>A
XM_006711947.2:c.1075-150T>A	XP_006712010.1:n.1075-150T>A
XM_011532548.1:c.1189-150T>A	XP_011530850.1:n.1189-150T>A
XM_011532549.1:c.1129-150T>A	XP_011530851.1:n.1129-150T>A
XM_011532550.1:c.1075-150T>A	XP_011530852.1:n.1075-150T>A
XM_011532551.1:c.1075-150T>A	XP_011530853.1:n.1075-150T>A
XM_011532552.1:c.1015-150T>A	XP_011530854.1:n.1015-150T>A
XM_011532553.1:c.1189-2282T>A	XP_011530855.1:n.1189-2282T>A
XM_011532554.1:c.343-150T>A	XP_011530856.1:n.343-150T>A
NM_001321739.1:c.1075-150T>A	NP_001308668.1:n.1075-150T>A
XM_005264152.3:c.343-150T>A	XP_005264209.1:n.343-150T>A
XM_006711946.3:c.1189-150T>A	XP_006712009.1:n.1189-150T>A
XM_011532548.2:c.1189-150T>A	XP_011530850.1:n.1189-150T>A
XM_011532549.2:c.1129-150T>A	XP_011530851.1:n.1129-150T>A
XM_011532550.2:c.1075-150T>A	XP_011530852.1:n.1075-150T>A
XM_011532551.2:c.1075-150T>A	XP_011530853.1:n.1075-150T>A
XM_011532552.2:c.1015-150T>A	XP_011530854.1:n.1015-150T>A
XM_011532553.2:c.1189-2282T>A	XP_011530855.1:n.1189-2282T>A
XM_011532554.2:c.343-150T>A	XP_011530856.1:n.343-150T>A
XM_024452711.1:c.1075-2282T>A	XP_024308479.1:n.1075-2282T>A
NM_001321739.2:c.1075-150T>A MANE Select	NP_001308668.1:n.1075-150T>A
NM_001281296.2:c.1075-150T>A	NP_001268225.1:n.1075-150T>A
NM_138804.5:c.1075-150T>A	NP_620159.2:n.1075-150T>A