Canonical Allele Identifier: CA1706943

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71612671C>T , CM000664.2:g.71612671C>T	GRCh38
NC_000002.11:g.71839801C>T , CM000664.1:g.71839801C>T	GRCh37
NC_000002.10:g.71693309C>T	NCBI36
NG_008694.1:g.164049C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.4252C>T MANE Select	NP_001124459.1:p.Pro1418Ser
ENST00000410020.8:c.4252C>T MANE Select	ENSP00000386881.3:p.Pro1418Ser
NM_003494.4:c.4198C>T MANE Plus Clinical	NP_003485.1:p.Pro1400Ser
ENST00000258104.8:c.4198C>T MANE Plus Clinical	ENSP00000258104.3:p.Pro1400Ser
NM_001130455.1:c.4201C>T	NP_001123927.1:p.Pro1401Ser
NM_001130455.2:c.4201C>T	NP_001123927.1:p.Pro1401Ser
NM_001130976.1:c.4156C>T	NP_001124448.1:p.Pro1386Ser
NM_001130976.2:c.4156C>T	NP_001124448.1:p.Pro1386Ser
NM_001130977.1:c.4156C>T	NP_001124449.1:p.Pro1386Ser
NM_001130977.2:c.4156C>T	NP_001124449.1:p.Pro1386Ser
NM_001130978.1:c.4198C>T	NP_001124450.1:p.Pro1400Ser
NM_001130978.2:c.4198C>T	NP_001124450.1:p.Pro1400Ser
NM_001130979.1:c.4291C>T	NP_001124451.1:p.Pro1431Ser
NM_001130979.2:c.4291C>T	NP_001124451.1:p.Pro1431Ser
NM_001130980.1:c.4249C>T	NP_001124452.1:p.Pro1417Ser
NM_001130980.2:c.4249C>T	NP_001124452.1:p.Pro1417Ser
NM_001130981.1:c.4249C>T	NP_001124453.1:p.Pro1417Ser
NM_001130981.2:c.4249C>T	NP_001124453.1:p.Pro1417Ser
NM_001130982.1:c.4294C>T	NP_001124454.1:p.Pro1432Ser
NM_001130982.2:c.4294C>T	NP_001124454.1:p.Pro1432Ser
NM_001130983.1:c.4201C>T	NP_001124455.1:p.Pro1401Ser
NM_001130983.2:c.4201C>T	NP_001124455.1:p.Pro1401Ser
NM_001130984.1:c.4159C>T	NP_001124456.1:p.Pro1387Ser
NM_001130984.2:c.4159C>T	NP_001124456.1:p.Pro1387Ser
NM_001130985.1:c.4252C>T	NP_001124457.1:p.Pro1418Ser
NM_001130985.2:c.4252C>T	NP_001124457.1:p.Pro1418Ser
NM_001130986.1:c.4159C>T	NP_001124458.1:p.Pro1387Ser
NM_001130986.2:c.4159C>T	NP_001124458.1:p.Pro1387Ser
NM_001130987.1:c.4252C>T	NP_001124459.1:p.Pro1418Ser
NM_003494.3:c.4198C>T	NP_003485.1:p.Pro1400Ser
ENST00000258104.7:c.4198C>T	ENSP00000258104.3:p.Pro1400Ser
ENST00000394120.6:c.4201C>T	ENSP00000377678.2:p.Pro1401Ser
ENST00000409366.5:c.4201C>T	ENSP00000386512.1:p.Pro1401Ser
ENST00000409582.7:c.4249C>T	ENSP00000386547.3:p.Pro1417Ser
ENST00000409651.5:c.4294C>T	ENSP00000386683.1:p.Pro1432Ser
ENST00000409744.5:c.4159C>T	ENSP00000386285.1:p.Pro1387Ser
ENST00000409762.5:c.4249C>T	ENSP00000387137.1:p.Pro1417Ser
ENST00000410020.7:c.4252C>T	ENSP00000386881.3:p.Pro1418Ser
ENST00000410041.1:c.4252C>T	ENSP00000386617.1:p.Pro1418Ser
ENST00000413539.6:c.4291C>T	ENSP00000407046.2:p.Pro1431Ser
ENST00000429174.6:c.4198C>T	ENSP00000398305.2:p.Pro1400Ser
ENST00000468173.1:n.434C>T
ENST00000472873.5:n.582C>T
ENST00000479049.6:n.1083C>T
ENST00000487180.5:n.417C>T
ENST00000494501.5:n.496C>T
ENST00000698057.1:c.1666C>T	ENSP00000513536.1:p.Pro556Ser
ENST00000698058.1:c.883C>T	ENSP00000513537.1:p.Pro295Ser
ENST00000698059.1:c.841C>T	ENSP00000513538.1:p.Pro281Ser
XM_005264584.3:c.4294C>T	XP_005264641.1:p.Pro1432Ser
XM_005264584.4:c.4294C>T	XP_005264641.1:p.Pro1432Ser
XM_005264585.3:c.4291C>T	XP_005264642.1:p.Pro1431Ser
XM_005264585.5:c.4291C>T	XP_005264642.1:p.Pro1431Ser
XR_001738969.1:n.4452C>T