Canonical Allele Identifier: CA347228390

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71838599T>C (hg19) ; chr2:g.71611469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611469T>C , CM000664.2:g.71611469T>C	GRCh38
NC_000002.11:g.71838599T>C , CM000664.1:g.71838599T>C	GRCh37
NC_000002.10:g.71692107T>C	NCBI36
NG_008694.1:g.162847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1478T>C	ENSP00000513536.1:p.Leu493Pro
ENST00000698058.1:c.695T>C	ENSP00000513537.1:p.Leu232Pro
ENST00000698059.1:c.653T>C	ENSP00000513538.1:p.Leu218Pro
ENST00000258104.8:c.4010T>C MANE Plus Clinical	ENSP00000258104.3:p.Leu1337Pro
ENST00000410020.8:c.4064T>C MANE Select	ENSP00000386881.3:p.Leu1355Pro
ENST00000258104.7:c.4010T>C	ENSP00000258104.3:p.Leu1337Pro
ENST00000394120.6:c.4013T>C	ENSP00000377678.2:p.Leu1338Pro
ENST00000409366.5:c.4013T>C	ENSP00000386512.1:p.Leu1338Pro
ENST00000409582.7:c.4061T>C	ENSP00000386547.3:p.Leu1354Pro
ENST00000409651.5:c.4106T>C	ENSP00000386683.1:p.Leu1369Pro
ENST00000409744.5:c.3971T>C	ENSP00000386285.1:p.Leu1324Pro
ENST00000409762.5:c.4061T>C	ENSP00000387137.1:p.Leu1354Pro
ENST00000410020.7:c.4064T>C	ENSP00000386881.3:p.Leu1355Pro
ENST00000410041.1:c.4064T>C	ENSP00000386617.1:p.Leu1355Pro
ENST00000413539.6:c.4103T>C	ENSP00000407046.2:p.Leu1368Pro
ENST00000429174.6:c.4010T>C	ENSP00000398305.2:p.Leu1337Pro
ENST00000468173.1:n.246T>C
ENST00000472873.5:n.394T>C
ENST00000479049.6:n.895T>C
ENST00000487180.5:n.229T>C
ENST00000494501.5:n.366-58T>C
NM_001130455.1:c.4013T>C	NP_001123927.1:p.Leu1338Pro
NM_001130976.1:c.3968T>C	NP_001124448.1:p.Leu1323Pro
NM_001130977.1:c.3968T>C	NP_001124449.1:p.Leu1323Pro
NM_001130978.1:c.4010T>C	NP_001124450.1:p.Leu1337Pro
NM_001130979.1:c.4103T>C	NP_001124451.1:p.Leu1368Pro
NM_001130980.1:c.4061T>C	NP_001124452.1:p.Leu1354Pro
NM_001130981.1:c.4061T>C	NP_001124453.1:p.Leu1354Pro
NM_001130982.1:c.4106T>C	NP_001124454.1:p.Leu1369Pro
NM_001130983.1:c.4013T>C	NP_001124455.1:p.Leu1338Pro
NM_001130984.1:c.3971T>C	NP_001124456.1:p.Leu1324Pro
NM_001130985.1:c.4064T>C	NP_001124457.1:p.Leu1355Pro
NM_001130986.1:c.3971T>C	NP_001124458.1:p.Leu1324Pro
NM_001130987.1:c.4064T>C	NP_001124459.1:p.Leu1355Pro
NM_003494.3:c.4010T>C	NP_003485.1:p.Leu1337Pro
XM_005264584.3:c.4106T>C	XP_005264641.1:p.Leu1369Pro
XM_005264585.3:c.4103T>C	XP_005264642.1:p.Leu1368Pro
XM_005264584.4:c.4106T>C	XP_005264641.1:p.Leu1369Pro
XM_005264585.5:c.4103T>C	XP_005264642.1:p.Leu1368Pro
XR_001738969.1:n.4264T>C
NM_001130987.2:c.4064T>C MANE Select	NP_001124459.1:p.Leu1355Pro
NM_001130455.2:c.4013T>C	NP_001123927.1:p.Leu1338Pro
NM_001130976.2:c.3968T>C	NP_001124448.1:p.Leu1323Pro
NM_001130977.2:c.3968T>C	NP_001124449.1:p.Leu1323Pro
NM_001130978.2:c.4010T>C	NP_001124450.1:p.Leu1337Pro
NM_001130979.2:c.4103T>C	NP_001124451.1:p.Leu1368Pro
NM_001130980.2:c.4061T>C	NP_001124452.1:p.Leu1354Pro
NM_001130981.2:c.4061T>C	NP_001124453.1:p.Leu1354Pro
NM_001130982.2:c.4106T>C	NP_001124454.1:p.Leu1369Pro
NM_001130983.2:c.4013T>C	NP_001124455.1:p.Leu1338Pro
NM_001130984.2:c.3971T>C	NP_001124456.1:p.Leu1324Pro
NM_001130985.2:c.4064T>C	NP_001124457.1:p.Leu1355Pro
NM_001130986.2:c.3971T>C	NP_001124458.1:p.Leu1324Pro
NM_003494.4:c.4010T>C MANE Plus Clinical	NP_003485.1:p.Leu1337Pro