Canonical Allele Identifier: CA279385269
Community Standard Title: NM_001376256.1(CRYM):c.880+264C>T
Gene: CRYM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21260990G>A , CM000678.2:g.21260990G>A GRCh38
NC_000016.9:g.21272311G>A , CM000678.1:g.21272311G>A GRCh37
NC_000016.8:g.21179812G>A NCBI36
NG_011610.1:g.47107C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001376256.1:c.880+264C>T MANE Select NP_001363185.1:n.880+264C>T
ENST00000572914.2:c.880+264C>T MANE Select ENSP00000461904.2:n.880+264C>T
NM_001888.4:c.880+264C>T NP_001879.1:n.880+264C>T
NM_001888.5:c.880+264C>T NP_001879.1:n.880+264C>T
ENST00000219599.7:c.880+264C>T ENSP00000219599.3:n.880+264C>T
ENST00000219599.8:c.880+264C>T ENSP00000219599.3:n.880+264C>T
ENST00000543948.5:c.880+264C>T ENSP00000440227.1:n.880+264C>T
ENST00000570401.5:c.207+264C>T
ENST00000574448.5:c.*520+264C>T ENSP00000459982.1:n.*520+264C>T
XM_011545740.1:c.880+264C>T XP_011544042.1:n.880+264C>T
XM_024450157.1:c.880+264C>T XP_024305925.1:n.880+264C>T
XR_950904.1:n.735+6197G>A