Canonical Allele Identifier: CA3659944
Gene: CARMIL1 HGNC NCBI
CMAHP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25426540G>A , CM000668.2:g.25426540G>A GRCh38
NC_000006.11:g.25426768G>A , CM000668.1:g.25426768G>A GRCh37
NC_000006.10:g.25534747G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017640.6:c.229G>A (CARMIL1) MANE Select NP_060110.4:p.Val77Ile
ENST00000329474.7:c.229G>A (CARMIL1) MANE Select ENSP00000331983.6:p.Val77Ile
NM_001173977.1:c.229G>A (CARMIL1) NP_001167448.1:p.Val77Ile
NM_001173977.2:c.229G>A (CARMIL1) NP_001167448.1:p.Val77Ile
NM_017640.5:c.229G>A (CARMIL1) NP_060110.4:p.Val77Ile
ENST00000329474.6:c.229G>A (CARMIL1) ENSP00000331983.6:p.Val77Ile
ENST00000461945.1:c.-21G>A (CARMIL1) ENSP00000489403.1:n.-21G>A
ENST00000643807.1:n.149-6157C>T (CMAHP)
ENST00000646922.1:n.184-6157C>T (CMAHP)
ENST00000647050.1:n.155-6157C>T (CMAHP)
ENST00000700669.1:c.229G>A (CARMIL1) ENSP00000515137.1:p.Val77Ile
XM_005249218.1:c.229G>A (CARMIL1) XP_005249275.1:p.Val77Ile
XM_011514732.1:c.229G>A (CARMIL1) XP_011513034.1:p.Val77Ile
XM_011514733.1:c.229G>A (CARMIL1) XP_011513035.1:p.Val77Ile
XM_011514734.1:c.189+6376G>A (CARMIL1) XP_011513036.1:n.189+6376G>A
XM_011514735.1:c.229G>A (CARMIL1) XP_011513037.1:p.Val77Ile
XM_011514736.1:c.229G>A (CARMIL1) XP_011513038.1:p.Val77Ile
XM_011514737.1:c.229G>A (CARMIL1) XP_011513039.1:p.Val77Ile
XM_017011008.1:c.229G>A (CARMIL1) XP_016866497.1:p.Val77Ile
XM_017011009.1:c.229G>A (CARMIL1) XP_016866498.1:p.Val77Ile
XM_017011010.1:c.229G>A (CARMIL1) XP_016866499.1:p.Val77Ile
XM_017011011.1:c.229G>A (CARMIL1) XP_016866500.1:p.Val77Ile
XM_017011012.1:c.229G>A (CARMIL1) XP_016866501.1:p.Val77Ile
XM_017011013.1:c.229G>A (CARMIL1) XP_016866502.1:p.Val77Ile
XM_017011014.1:c.189+6376G>A (CARMIL1) XP_016866503.1:n.189+6376G>A
XM_017011015.1:c.229G>A (CARMIL1) XP_016866504.1:p.Val77Ile
XM_017011016.1:c.229G>A (CARMIL1) XP_016866505.1:p.Val77Ile
XM_017011017.1:c.229G>A (CARMIL1) XP_016866506.1:p.Val77Ile
XM_024446484.1:c.229G>A (CARMIL1) XP_024302252.1:p.Val77Ile
XM_024446485.1:c.229G>A (CARMIL1) XP_024302253.1:p.Val77Ile