Canonical Allele Identifier: CA2838307599

Gene: MTCL1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.8801405T>C , CM000680.2:g.8801405T>C	GRCh38
NC_000018.9:g.8801403T>C , CM000680.1:g.8801403T>C	GRCh37
NC_000018.8:g.8791403T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306329.16:c.3393+3114T>C	ENSP00000305027.11:n.3393+3114T>C
ENST00000695635.1:c.3393+3114T>C	ENSP00000512072.1:n.3393+3114T>C
ENST00000695636.1:c.3516+3114T>C MANE Select	ENSP00000512073.1:n.3516+3114T>C
ENST00000306329.15:c.3393+3114T>C	ENSP00000305027.11:n.3393+3114T>C
ENST00000359865.7:c.2436+3114T>C	ENSP00000352927.3:n.2436+3114T>C
ENST00000400050.7:c.2436+3114T>C	ENSP00000382924.4:n.2436+3114T>C
ENST00000517570.5:c.2313+3114T>C	ENSP00000429556.1:n.2313+3114T>C
ENST00000518815.1:c.381+3114T>C	ENSP00000463465.1:n.381+3114T>C
ENST00000520495.5:c.*346+3114T>C	ENSP00000463438.1:n.*346+3114T>C
ENST00000522592.1:n.336+628T>C
NM_015210.3:c.2436+3114T>C	NP_056025.2:n.2436+3114T>C
XM_005258098.2:c.3393+3114T>C	XP_005258155.1:n.3393+3114T>C
XM_005258099.3:c.3393+3114T>C	XP_005258156.1:n.3393+3114T>C
XM_011525640.1:c.3594+3114T>C	XP_011523942.1:n.3594+3114T>C
XM_011525641.1:c.3516+3114T>C	XP_011523943.1:n.3516+3114T>C
XM_005258098.4:c.2376+3114T>C	XP_005258155.2:n.2376+3114T>C
XM_005258099.5:c.2376+3114T>C	XP_005258156.2:n.2376+3114T>C
XM_011525640.3:c.2577+3114T>C	XP_011523942.2:n.2577+3114T>C
XM_011525641.3:c.2499+3114T>C	XP_011523943.2:n.2499+3114T>C
XM_017025671.2:c.2667+3114T>C	XP_016881160.1:n.2667+3114T>C
XM_017025672.1:c.2514+3114T>C	XP_016881161.1:n.2514+3114T>C
XM_017025673.1:c.2514+3114T>C	XP_016881162.1:n.2514+3114T>C
XM_017025674.2:c.2514+3114T>C	XP_016881163.1:n.2514+3114T>C
XM_017025675.1:c.2436+3114T>C	XP_016881164.1:n.2436+3114T>C
XM_024451110.1:c.2577+3114T>C	XP_024306878.1:n.2577+3114T>C
XM_024451111.1:c.2574+3114T>C	XP_024306879.1:n.2574+3114T>C
XM_024451112.1:c.2499+3114T>C	XP_024306880.1:n.2499+3114T>C
XM_024451113.1:c.2577+3114T>C	XP_024306881.1:n.2577+3114T>C
XM_024451114.1:c.2454+3114T>C	XP_024306882.1:n.2454+3114T>C
XM_024451115.1:c.2577+3114T>C	XP_024306883.1:n.2577+3114T>C
XM_024451116.1:c.2577+3114T>C	XP_024306884.1:n.2577+3114T>C
XM_024451117.1:c.2577+3114T>C	XP_024306885.1:n.2577+3114T>C
XM_024451118.1:c.2454+3114T>C	XP_024306886.1:n.2454+3114T>C
XM_024451119.1:c.2577+3114T>C	XP_024306887.1:n.2577+3114T>C
XM_024451120.1:c.2577+3114T>C	XP_024306888.1:n.2577+3114T>C
XM_024451121.1:c.2454+3114T>C	XP_024306889.1:n.2454+3114T>C
XM_024451122.1:c.2514+3114T>C	XP_024306890.1:n.2514+3114T>C
XM_024451123.1:c.2313+3114T>C	XP_024306891.1:n.2313+3114T>C
XM_024451124.1:c.2577+3114T>C	XP_024306892.1:n.2577+3114T>C
XM_024451125.1:c.426+3114T>C	XP_024306893.1:n.426+3114T>C
XM_024451126.1:c.426+3114T>C	XP_024306894.1:n.426+3114T>C
XM_024451127.1:c.426+3114T>C	XP_024306895.1:n.426+3114T>C
XM_024451128.1:c.426+3114T>C	XP_024306896.1:n.426+3114T>C
XR_002958167.1:n.2735+3114T>C
NM_015210.4:c.2436+3114T>C	NP_056025.2:n.2436+3114T>C
NM_001378205.1:c.3393+3114T>C	NP_001365134.1:n.3393+3114T>C
NM_001378206.1:c.3516+3114T>C	NP_001365135.1:n.3516+3114T>C
NM_001378207.1:c.3393+3114T>C	NP_001365136.1:n.3393+3114T>C
NM_001395220.1:c.2313+3114T>C	NP_001382149.1:n.2313+3114T>C
NM_001395333.1:c.3516+3114T>C MANE Select	NP_001382262.1:n.3516+3114T>C