Canonical Allele Identifier: CA7950815
Community Standard Title: NM_001376256.1(CRYM):c.168G>C (p.Arg56Ser)
Gene: CRYM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21278084C>G , CM000678.2:g.21278084C>G GRCh38
NC_000016.9:g.21289405C>G , CM000678.1:g.21289405C>G GRCh37
NC_000016.8:g.21196906C>G NCBI36
NG_011610.1:g.30013G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001376256.1:c.168G>C MANE Select NP_001363185.1:p.Arg56Ser
ENST00000572914.2:c.168G>C MANE Select ENSP00000461904.2:p.Arg56Ser
NM_001888.4:c.168G>C NP_001879.1:p.Arg56Ser
NM_001888.5:c.168G>C NP_001879.1:p.Arg56Ser
ENST00000219599.7:c.168G>C ENSP00000219599.3:p.Arg56Ser
ENST00000219599.8:c.168G>C ENSP00000219599.3:p.Arg56Ser
ENST00000543948.5:c.168G>C ENSP00000440227.1:p.Arg56Ser
ENST00000571666.1:n.162G>C
ENST00000572914.1:c.168G>C ENSP00000461904.1:p.Arg56Ser
ENST00000574448.5:c.168G>C ENSP00000459982.1:p.Arg56Ser
ENST00000576703.5:c.42G>C ENSP00000460126.1:p.Arg14Ser
XM_011545740.1:c.168G>C XP_011544042.1:p.Arg56Ser
XM_024450157.1:c.168G>C XP_024305925.1:p.Arg56Ser