Canonical Allele Identifier: CA347217511

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71778273T>C (hg19) ; chr2:g.71551143T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551143T>C , CM000664.2:g.71551143T>C	GRCh38
NC_000002.11:g.71778273T>C , CM000664.1:g.71778273T>C	GRCh37
NC_000002.10:g.71631781T>C	NCBI36
NG_008694.1:g.102521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1625T>C MANE Plus Clinical	ENSP00000258104.3:p.Leu542Pro
ENST00000410020.8:c.1679T>C MANE Select	ENSP00000386881.3:p.Leu560Pro
ENST00000258104.7:c.1625T>C	ENSP00000258104.3:p.Leu542Pro
ENST00000394120.6:c.1628T>C	ENSP00000377678.2:p.Leu543Pro
ENST00000409366.5:c.1628T>C	ENSP00000386512.1:p.Leu543Pro
ENST00000409582.7:c.1676T>C	ENSP00000386547.3:p.Leu559Pro
ENST00000409651.5:c.1721T>C	ENSP00000386683.1:p.Leu574Pro
ENST00000409744.5:c.1586T>C	ENSP00000386285.1:p.Leu529Pro
ENST00000409762.5:c.1676T>C	ENSP00000387137.1:p.Leu559Pro
ENST00000410020.7:c.1679T>C	ENSP00000386881.3:p.Leu560Pro
ENST00000410041.1:c.1679T>C	ENSP00000386617.1:p.Leu560Pro
ENST00000413539.6:c.1718T>C	ENSP00000407046.2:p.Leu573Pro
ENST00000429174.6:c.1625T>C	ENSP00000398305.2:p.Leu542Pro
NM_001130455.1:c.1628T>C	NP_001123927.1:p.Leu543Pro
NM_001130976.1:c.1583T>C	NP_001124448.1:p.Leu528Pro
NM_001130977.1:c.1583T>C	NP_001124449.1:p.Leu528Pro
NM_001130978.1:c.1625T>C	NP_001124450.1:p.Leu542Pro
NM_001130979.1:c.1718T>C	NP_001124451.1:p.Leu573Pro
NM_001130980.1:c.1676T>C	NP_001124452.1:p.Leu559Pro
NM_001130981.1:c.1676T>C	NP_001124453.1:p.Leu559Pro
NM_001130982.1:c.1721T>C	NP_001124454.1:p.Leu574Pro
NM_001130983.1:c.1628T>C	NP_001124455.1:p.Leu543Pro
NM_001130984.1:c.1586T>C	NP_001124456.1:p.Leu529Pro
NM_001130985.1:c.1679T>C	NP_001124457.1:p.Leu560Pro
NM_001130986.1:c.1586T>C	NP_001124458.1:p.Leu529Pro
NM_001130987.1:c.1679T>C	NP_001124459.1:p.Leu560Pro
NM_003494.3:c.1625T>C	NP_003485.1:p.Leu542Pro
XM_005264584.3:c.1721T>C	XP_005264641.1:p.Leu574Pro
XM_005264585.3:c.1718T>C	XP_005264642.1:p.Leu573Pro
XM_005264584.4:c.1721T>C	XP_005264641.1:p.Leu574Pro
XM_005264585.5:c.1718T>C	XP_005264642.1:p.Leu573Pro
XR_001738969.1:n.1879T>C
NM_001130987.2:c.1679T>C MANE Select	NP_001124459.1:p.Leu560Pro
NM_001130455.2:c.1628T>C	NP_001123927.1:p.Leu543Pro
NM_001130976.2:c.1583T>C	NP_001124448.1:p.Leu528Pro
NM_001130977.2:c.1583T>C	NP_001124449.1:p.Leu528Pro
NM_001130978.2:c.1625T>C	NP_001124450.1:p.Leu542Pro
NM_001130979.2:c.1718T>C	NP_001124451.1:p.Leu573Pro
NM_001130980.2:c.1676T>C	NP_001124452.1:p.Leu559Pro
NM_001130981.2:c.1676T>C	NP_001124453.1:p.Leu559Pro
NM_001130982.2:c.1721T>C	NP_001124454.1:p.Leu574Pro
NM_001130983.2:c.1628T>C	NP_001124455.1:p.Leu543Pro
NM_001130984.2:c.1586T>C	NP_001124456.1:p.Leu529Pro
NM_001130985.2:c.1679T>C	NP_001124457.1:p.Leu560Pro
NM_001130986.2:c.1586T>C	NP_001124458.1:p.Leu529Pro
NM_003494.4:c.1625T>C MANE Plus Clinical	NP_003485.1:p.Leu542Pro