Canonical Allele Identifier: CA3556011
Community Standard Title: NM_004137.4(KCNMB1):c.337T>G (p.Tyr113Asp)
Gene: KCNMB1 HGNC NCBI
KCNIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.170378943A>C , CM000667.2:g.170378943A>C GRCh38
NC_000005.9:g.169805947A>C , CM000667.1:g.169805947A>C GRCh37
NC_000005.8:g.169738525A>C NCBI36
NG_011452.2:g.15692T>G
NG_011538.1:g.30067A>C
NG_011538.2:g.30067A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004137.4:c.337T>G (KCNMB1) MANE Select NP_004128.1:p.Tyr113Asp
ENST00000274629.9:c.337T>G (KCNMB1) MANE Select ENSP00000274629.3:p.Tyr113Asp
NM_001034838.2:c.88+24979A>C (KCNIP1) NP_001030010.1:n.88+24979A>C
NM_001034838.3:c.88+24979A>C (KCNIP1) NP_001030010.1:n.88+24979A>C
NM_004137.3:c.337T>G (KCNMB1) NP_004128.1:p.Tyr113Asp
ENST00000274629.8:c.337T>G (KCNMB1) ENSP00000274629.3:p.Tyr113Asp
ENST00000377360.8:c.88+24979A>C (KCNIP1) ENSP00000366577.4:n.88+24979A>C
ENST00000517344.1:c.88+24979A>C (KCNIP1) ENSP00000431053.1:n.88+24979A>C
ENST00000518527.1:n.478+24979A>C (KCNIP1)
XM_006714861.1:c.-1+24979A>C (KCNIP1) XP_006714924.1:n.-1+24979A>C
XM_011534539.1:c.88+24979A>C (KCNIP1) XP_011532841.1:n.88+24979A>C
XM_017009407.1:c.88+24979A>C (KCNIP1) XP_016864896.1:n.88+24979A>C
XM_017009408.1:c.88+24979A>C (KCNIP1) XP_016864897.1:n.88+24979A>C