Canonical Allele Identifier: CA12476902

Gene: ACHE

Linked Data

• dbSNP Id: rs2571598
• gnomAD v2: 7-100489639-C-T
• gnomAD v3: 7-100892018-C-T
• gnomAD v4: 7-100892018-C-T
• MyVariant Identifiers: chr7:g.100489639C>T (hg19) ; chr7:g.100892018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100892018C>T , CM000669.2:g.100892018C>T	GRCh38
NC_000007.13:g.100489639C>T , CM000669.1:g.100489639C>T	GRCh37
NC_000007.12:g.100327575C>T	NCBI36
NG_007474.1:g.8903G>A
NG_007474.2:g.9116G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000241069.11:c.1553+316G>A MANE Select	ENSP00000241069.5:n.1553+316G>A
ENST00000411582.4:c.1553+316G>A	ENSP00000404865.1:n.1553+316G>A
ENST00000428317.7:c.1553+316G>A	ENSP00000414858.1:n.1553+316G>A
ENST00000651875.1:n.1996+316G>A
ENST00000241069.9:c.1553+316G>A	ENSP00000241069.5:n.1553+316G>A
ENST00000302913.8:c.1553+316G>A	ENSP00000303211.4:n.1553+316G>A
ENST00000411582.1:c.1553+316G>A	ENSP00000404865.1:n.1553+316G>A
ENST00000412389.5:c.1553+316G>A	ENSP00000394976.1:n.1553+316G>A
ENST00000419336.6:c.1289+316G>A	ENSP00000403474.2:n.1289+316G>A
ENST00000426415.5:c.1068+1147G>A	ENSP00000397143.1:n.1068+1147G>A
ENST00000428317.5:c.1553+316G>A	ENSP00000414858.1:n.1553+316G>A
ENST00000430554.1:c.1179+690G>A	ENSP00000399725.1:n.1179+690G>A
ENST00000440755.5:c.1069-680G>A	ENSP00000410380.1:n.1069-680G>A
ENST00000442452.1:c.*1008+316G>A	ENSP00000415901.1:n.*1008+316G>A
ENST00000454485.5:c.1200+669G>A	ENSP00000390004.1:n.1200+669G>A
NM_000665.4:c.1553+316G>A	NP_000656.1:n.1553+316G>A
NM_001282449.1:c.1289+316G>A	NP_001269378.1:n.1289+316G>A
NM_001302621.1:c.1553+316G>A	NP_001289550.1:n.1553+316G>A
NM_001302622.1:c.1553+316G>A	NP_001289551.1:n.1553+316G>A
NM_015831.2:c.1553+316G>A	NP_056646.1:n.1553+316G>A
XM_006715995.2:c.1553+316G>A	XP_006716058.1:n.1553+316G>A
XM_011516225.1:c.2051+316G>A	XP_011514527.1:n.2051+316G>A
XM_011516226.1:c.1787+316G>A	XP_011514528.1:n.1787+316G>A
XM_011516227.1:c.1553+316G>A	XP_011514529.1:n.1553+316G>A
XM_011516228.1:c.1553+316G>A	XP_011514530.1:n.1553+316G>A
XM_011516229.1:c.1553+316G>A	XP_011514531.1:n.1553+316G>A
XR_927464.1:n.1924+316G>A
XR_927465.1:n.1615-680G>A
XM_011516225.2:c.2051+316G>A	XP_011514527.1:n.2051+316G>A
XM_011516226.2:c.1787+316G>A	XP_011514528.1:n.1787+316G>A
XM_011516228.2:c.1553+316G>A	XP_011514530.1:n.1553+316G>A
XM_011516229.2:c.1553+316G>A	XP_011514531.1:n.1553+316G>A
XM_017012219.2:c.2051+316G>A	XP_016867708.1:n.2051+316G>A
XM_017012220.2:c.1787+316G>A	XP_016867709.1:n.1787+316G>A
XM_024446768.1:c.1553+316G>A	XP_024302536.1:n.1553+316G>A
XM_024446769.1:c.1553+316G>A	XP_024302537.1:n.1553+316G>A
XM_024446770.1:c.1553+316G>A	XP_024302538.1:n.1553+316G>A
XR_001744773.2:n.2535-680G>A
XR_927464.3:n.2849+316G>A
XR_927465.3:n.2535-680G>A
NM_000665.5:c.1553+316G>A MANE Select	NP_000656.1:n.1553+316G>A
NM_001282449.2:c.1289+316G>A	NP_001269378.1:n.1289+316G>A
NM_001302621.2:c.1553+316G>A	NP_001289550.1:n.1553+316G>A
NM_001302622.2:c.1553+316G>A	NP_001289551.1:n.1553+316G>A
NM_001367915.1:c.1553+316G>A	NP_001354844.1:n.1553+316G>A
NM_001367917.1:c.1553+316G>A	NP_001354846.1:n.1553+316G>A
NM_001367918.1:c.1754+316G>A	NP_001354847.1:n.1754+316G>A
NM_001367919.1:c.1751+316G>A	NP_001354848.1:n.1751+316G>A
NR_160407.1:n.1534-680G>A
NR_160408.1:n.1176-680G>A
NM_001302621.3:c.1553+316G>A	NP_001289550.1:n.1553+316G>A
NM_001367919.2:c.1751+316G>A	NP_001354848.1:n.1751+316G>A
NR_160408.2:n.1176-680G>A