Canonical Allele Identifier: CA2693929271

Gene: LAS1L

Linked Data

• gnomAD v4: X-65523508-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.65523508C>A , CM000685.2:g.65523508C>A	GRCh38
NC_000023.10:g.64743388C>A , CM000685.1:g.64743388C>A	GRCh37
NC_000023.9:g.64660113C>A	NCBI36
NG_016369.1:g.16299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374811.8:c.1448+52G>T MANE Select	ENSP00000363944.3:n.1448+52G>T
ENST00000676986.1:c.1397+52G>T	ENSP00000503577.1:n.1397+52G>T
ENST00000677056.1:c.*851+52G>T	ENSP00000504224.1:n.*851+52G>T
ENST00000677087.1:c.1100+52G>T	ENSP00000503907.1:n.1100+52G>T
ENST00000677154.1:n.1480+52G>T
ENST00000677834.1:n.1436+52G>T
ENST00000677969.1:c.1397+52G>T	ENSP00000503410.1:n.1397+52G>T
ENST00000677986.1:n.2381+52G>T
ENST00000678074.1:n.2428+52G>T
ENST00000678173.1:n.1531+52G>T
ENST00000678547.1:n.1722+52G>T
ENST00000678570.1:c.1490+52G>T	ENSP00000504558.1:n.1490+52G>T
ENST00000678705.1:n.2516+52G>T
ENST00000678823.1:c.1448+52G>T	ENSP00000503795.1:n.1448+52G>T
ENST00000678848.1:n.4704+52G>T
ENST00000678956.1:c.1448+52G>T	ENSP00000504653.1:n.1448+52G>T
ENST00000679056.1:n.1543+52G>T
ENST00000679116.1:n.1716G>T
ENST00000679261.1:n.1533+52G>T
ENST00000679277.1:n.2001+52G>T
ENST00000374804.9:c.1271+52G>T	ENSP00000363937.5:n.1271+52G>T
ENST00000374807.9:c.1397+52G>T	ENSP00000363940.5:n.1397+52G>T
ENST00000374811.7:c.1448+52G>T	ENSP00000363944.3:n.1448+52G>T
ENST00000469091.1:c.58+52G>T
ENST00000484069.1:c.*514G>T	ENSP00000473471.1:n.*514G>T
NM_001170649.1:c.1397+52G>T	NP_001164120.1:n.1397+52G>T
NM_001170650.1:c.1271+52G>T	NP_001164121.1:n.1271+52G>T
NM_031206.4:c.1448+52G>T	NP_112483.1:n.1448+52G>T
XM_005262301.1:c.1448+52G>T	XP_005262358.1:n.1448+52G>T
XM_005262304.1:c.1448+52G>T	XP_005262361.1:n.1448+52G>T
XM_005262305.3:c.1448+52G>T	XP_005262362.1:n.1448+52G>T
XM_005262306.3:c.1448+52G>T	XP_005262363.1:n.1448+52G>T
XM_005262307.1:c.542+52G>T	XP_005262364.1:n.542+52G>T
XM_011531045.1:c.1322+52G>T	XP_011529347.1:n.1322+52G>T
XM_011531046.1:c.1448+52G>T	XP_011529348.1:n.1448+52G>T
XR_244504.1:n.1524+52G>T
XR_430522.1:n.1524+52G>T
XR_938411.1:n.1524+52G>T
XR_938412.1:n.1524+52G>T
XM_005262301.2:c.1448+52G>T	XP_005262358.1:n.1448+52G>T
XM_005262304.2:c.1448+52G>T	XP_005262361.1:n.1448+52G>T
XM_005262305.4:c.1448+52G>T	XP_005262362.1:n.1448+52G>T
XM_005262306.4:c.1448+52G>T	XP_005262363.1:n.1448+52G>T
XM_011531045.2:c.1322+52G>T	XP_011529347.1:n.1322+52G>T
XM_011531046.2:c.1448+52G>T	XP_011529348.1:n.1448+52G>T
XM_017029877.2:c.1397+52G>T	XP_016885366.1:n.1397+52G>T
XM_017029878.2:c.1397+52G>T	XP_016885367.1:n.1397+52G>T
XM_017029879.2:c.542+52G>T	XP_016885368.1:n.542+52G>T
XM_017029880.2:c.491+52G>T	XP_016885369.1:n.491+52G>T
XR_001755730.2:n.1460+52G>T
XR_001755731.2:n.1511+52G>T
XR_001755732.2:n.1511+52G>T
XR_001755733.2:n.1460+52G>T
XR_244504.2:n.1511+52G>T
XR_430522.2:n.1511+52G>T
XR_938412.2:n.1511+52G>T
NM_001375328.1:c.1448+52G>T	NP_001362257.1:n.1448+52G>T
NM_001375329.1:c.1448+52G>T	NP_001362258.1:n.1448+52G>T
NM_001375330.1:c.1448+52G>T	NP_001362259.1:n.1448+52G>T
NM_001375331.1:c.1397+52G>T	NP_001362260.1:n.1397+52G>T
NM_001375332.1:c.491+52G>T	NP_001362261.1:n.491+52G>T
NM_001375333.1:c.1397+52G>T	NP_001362262.1:n.1397+52G>T
NM_001375334.1:c.1448+52G>T	NP_001362263.1:n.1448+52G>T
NM_001375335.1:c.1448+52G>T	NP_001362264.1:n.1448+52G>T
NM_001375336.1:c.1397+52G>T	NP_001362265.1:n.1397+52G>T
NM_001375337.1:c.1397+52G>T	NP_001362266.1:n.1397+52G>T
NM_031206.7:c.1448+52G>T MANE Select	NP_112483.1:n.1448+52G>T
NR_164681.1:n.1520+52G>T
NM_001170649.2:c.1397+52G>T	NP_001164120.1:n.1397+52G>T
NM_001170650.2:c.1271+52G>T	NP_001164121.1:n.1271+52G>T