Canonical Allele Identifier: CA416724899

Linked Data

MyVariant Identifiers: chr1:g.25628102C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25301611C>T , CM000663.2:g.25301611C>T GRCh38
NC_000001.10:g.25628102C>T , CM000663.1:g.25628102C>T GRCh37
NC_000001.9:g.25500689C>T NCBI36
NG_007494.1:g.34122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328664.9:c.726C>T (RHD) MANE Select ENSP00000331871.4:p.Tyr242=
ENST00000648012.1:c.726C>T (RHD) ENSP00000498055.1:p.Tyr242=
ENST00000328664.8:c.726C>T (RHD) ENSP00000331871.4:p.Tyr242=
ENST00000342055.9:c.726C>T (RHD) ENSP00000339577.5:p.Tyr242=
ENST00000357542.8:c.726C>T (RHD) ENSP00000350150.4:p.Tyr242=
ENST00000417538.6:c.726C>T (RHD) ENSP00000396420.2:p.Tyr242=
ENST00000423253.1:n.726C>T (RHD)
ENST00000423810.6:c.726C>T (RHD) ENSP00000399640.2:p.Tyr242=
ENST00000454452.6:c.726C>T (RHD) ENSP00000413849.2:p.Tyr242=
ENST00000473314.6:c.-67+35429G>A (RSRP1) ENSP00000457582.1:n.-67+35429G>A
ENST00000561867.1:c.-67+36367G>A (RSRP1) ENSP00000456995.1:n.-67+36367G>A
ENST00000564398.5:n.881C>T (RHD)
ENST00000568195.5:c.726C>T (RHD) ENSP00000456966.1:p.Tyr242=
ENST00000568996.1:c.-67+36458G>A (RSRP1) ENSP00000458042.1:n.-67+36458G>A
ENST00000615607.1:c.726C>T (RHD) ENSP00000480925.1:p.Tyr242=
ENST00000622561.4:c.726C>T (RHD) ENSP00000478087.1:p.Tyr242=
NM_001127691.2:c.726C>T (RHD) NP_001121163.1:p.Tyr242=
NM_001282867.1:c.228C>T (RHD) NP_001269796.1:p.Tyr76=
NM_001282868.1:c.726C>T (RHD) NP_001269797.1:p.Tyr242=
NM_001282869.1:c.726C>T (RHD) NP_001269798.1:p.Tyr242=
NM_001282870.1:c.726C>T (RHD) NP_001269799.1:p.Tyr242=
NM_001282871.1:c.726C>T (RHD) NP_001269800.1:p.Tyr242=
NM_001282872.1:c.726C>T (RHD) NP_001269801.1:p.Tyr242=
NM_016124.4:c.726C>T (RHD) NP_057208.2:p.Tyr242=
XM_011541892.1:c.726C>T (RHD) XP_011540194.1:p.Tyr242=
XR_946734.1:n.881C>T (RHD)
XR_946735.1:n.881C>T (RHD)
XR_946736.1:n.881C>T (RHD)
XR_946737.1:n.881C>T (RHD)
XR_947098.1:n.144-9843G>A
NM_001321772.1:c.-67+35429G>A (RSRP1) NP_001308701.1:n.-67+35429G>A
NR_135787.1:n.1215+35429G>A (RSRP1)
NR_135788.1:n.277+36367G>A (RSRP1)
NR_135789.1:n.1215+35429G>A (RSRP1)
XM_017002015.1:c.726C>T (RHD) XP_016857504.1:p.Tyr242=
XR_946737.2:n.881C>T (RHD)
NM_001127691.3:c.726C>T (RHD) NP_001121163.1:p.Tyr242=
NM_001282869.2:c.726C>T (RHD) NP_001269798.1:p.Tyr242=
NM_001282871.2:c.726C>T (RHD) NP_001269800.1:p.Tyr242=
NM_001321772.2:c.-67+35429G>A (RSRP1) NP_001308701.1:n.-67+35429G>A
NM_016124.5:c.-4294966531C>T
NR_135787.2:n.1215+35429G>A (RSRP1)
NR_135788.2:n.277+36367G>A (RSRP1)
NR_135789.2:n.1215+35429G>A (RSRP1)
NM_016124.6:c.726C>T (RHD) MANE Select NP_057208.3:p.Tyr242=