Canonical Allele Identifier: CA391182469

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105249024C>T , CM000676.2:g.105249024C>T GRCh38
NC_000014.8:g.105715361C>T , CM000676.1:g.105715361C>T GRCh37
NC_000014.7:g.104786406C>T NCBI36
NG_029489.1:g.71554G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001387567.1:c.313C>T (BTBD6) MANE Select NP_001374496.1:p.Leu105Phe
NM_001519.4:c.544+3483G>A (BRF1) MANE Select NP_001510.2:n.544+3483G>A
ENST00000392554.8:c.313C>T (BTBD6) MANE Select ENSP00000376337.4:p.Leu105Phe
ENST00000547530.7:c.544+3483G>A (BRF1) MANE Select ENSP00000448387.2:n.544+3483G>A
NM_001242786.1:c.199+3483G>A (BRF1) NP_001229715.1:n.199+3483G>A
NM_001242786.2:c.199+3483G>A (BRF1) NP_001229715.1:n.199+3483G>A
NM_001242787.1:c.199+3483G>A (BRF1) NP_001229716.1:n.199+3483G>A
NM_001242787.2:c.199+3483G>A (BRF1) NP_001229716.1:n.199+3483G>A
NM_001242788.1:c.463+3483G>A (BRF1) NP_001229717.1:n.463+3483G>A
NM_001242788.2:c.463+3483G>A (BRF1) NP_001229717.1:n.463+3483G>A
NM_001242789.1:c.-21+125G>A (BRF1) NP_001229718.1:n.-21+125G>A
NM_001242789.2:c.-21+125G>A (BRF1) NP_001229718.1:n.-21+125G>A
NM_001519.3:c.544+3483G>A (BRF1) NP_001510.2:n.544+3483G>A
NM_033271.2:c.154C>T (BTBD6) NP_150374.2:p.Leu52Phe
NM_033271.3:c.154C>T (BTBD6) NP_150374.2:p.Leu52Phe
ENST00000327359.7:c.199+3483G>A (BRF1) ENSP00000329029.3:n.199+3483G>A
ENST00000327471.4:c.-72C>T (BTBD6) ENSP00000329361.3:n.-72C>T
ENST00000379937.6:c.463+3483G>A (BRF1) ENSP00000369269.2:n.463+3483G>A
ENST00000392554.7:c.154C>T (BTBD6) ENSP00000376337.3:p.Leu52Phe
ENST00000440513.7:c.199+3483G>A (BRF1) ENSP00000388877.3:n.199+3483G>A
ENST00000446501.6:c.-21+125G>A (BRF1) ENSP00000389859.2:n.-21+125G>A
ENST00000463376.6:c.-143C>T (BTBD6) ENSP00000418150.3:n.-143C>T
ENST00000536364.5:c.154C>T (BTBD6) ENSP00000443091.1:p.Leu52Phe
ENST00000536364.6:c.154C>T (BTBD6) ENSP00000443091.1:p.Leu52Phe
ENST00000537513.6:c.154C>T (BTBD6) ENSP00000446223.2:p.Leu52Phe
ENST00000546417.5:c.105-7610G>A (BRF1)
ENST00000547530.6:c.544+3483G>A (BRF1) ENSP00000448387.2:n.544+3483G>A
ENST00000552127.5:c.-69+125G>A (BRF1) ENSP00000449788.1:n.-69+125G>A
ENST00000619151.4:c.-69+3483G>A (BRF1) ENSP00000480452.1:n.-69+3483G>A
XM_005267561.3:c.544+3483G>A (BRF1) XP_005267618.1:n.544+3483G>A
XM_005267561.4:c.544+3483G>A (BRF1) XP_005267618.1:n.544+3483G>A
XM_005268188.2:c.313C>T (BTBD6) XP_005268245.1:p.Leu105Phe
XM_005268188.3:c.313C>T (BTBD6) XP_005268245.1:p.Leu105Phe
XM_011536672.1:c.544+3483G>A (BRF1) XP_011534974.1:n.544+3483G>A
XM_011536672.3:c.544+3483G>A (BRF1) XP_011534974.1:n.544+3483G>A
XM_011536673.1:c.544+3483G>A (BRF1) XP_011534975.1:n.544+3483G>A
XM_011536673.2:c.544+3483G>A (BRF1) XP_011534975.1:n.544+3483G>A