Canonical Allele Identifier: CA620492733
Gene: PAM16 HGNC NCBI
CORO7-PAM16 HGNC NCBI

Linked Data

dbSNP Id: rs1325818626
gnomAD v2: 16-4390891-T-C
gnomAD v4: 16-4340890-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4340890T>C , CM000678.2:g.4340890T>C GRCh38
NC_000016.9:g.4390891T>C , CM000678.1:g.4390891T>C GRCh37
NC_000016.8:g.4330892T>C NCBI36
NG_016391.1:g.13667T>C
NG_016391.2:g.31130T>C
NG_054893.1:g.15483A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318059.8:c.291+30A>G (PAM16) MANE Select ENSP00000315693.3:n.291+30A>G
ENST00000318059.7:c.291+30A>G (PAM16) ENSP00000315693.3:n.291+30A>G
ENST00000571178.1:c.265+30A>G (PAM16)
ENST00000571941.5:c.351+30A>G (PAM16) ENSP00000460708.1:n.351+30A>G
ENST00000571986.5:c.*184+30A>G (PAM16) ENSP00000459802.1:n.*184+30A>G
ENST00000572467.5:c.3060+30A>G (CORO7-PAM16) ENSP00000460885.1:n.3060+30A>G
ENST00000573236.5:n.547+30A>G (PAM16)
ENST00000573450.5:n.424+30A>G (PAM16)
ENST00000573553.5:c.351+30A>G (PAM16) ENSP00000459955.1:n.351+30A>G
ENST00000573614.5:n.495+30A>G (PAM16)
ENST00000575334.5:c.*1586+30A>G (CORO7-PAM16) ENSP00000458607.1:n.*1586+30A>G
ENST00000575636.5:c.*184+30A>G (PAM16) ENSP00000458914.1:n.*184+30A>G
ENST00000575848.5:c.327+30A>G (PAM16) ENSP00000458412.1:n.327+30A>G
ENST00000576217.1:c.291+30A>G (PAM16) ENSP00000461047.1:n.291+30A>G
ENST00000577031.5:c.291+30A>G (PAM16) ENSP00000459113.1:n.291+30A>G
NM_001201479.1:c.3060+30A>G (CORO7-PAM16) NP_001188408.1:n.3060+30A>G
NM_016069.9:c.291+30A>G (PAM16) NP_057153.8:n.291+30A>G
NM_016069.10:c.291+30A>G (PAM16) NP_057153.8:n.291+30A>G
NM_016069.11:c.291+30A>G (PAM16) MANE Select NP_057153.8:n.291+30A>G
NM_001201479.2:c.3060+30A>G (CORO7-PAM16) NP_001188408.1:n.3060+30A>G