Canonical Allele Identifier: CA2203260863
Gene: PAM16 HGNC NCBI
CORO7-PAM16 HGNC NCBI

Linked Data

dbSNP Id: rs2053633968
gnomAD v4: 16-4340906-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4340906C>G , CM000678.2:g.4340906C>G GRCh38
NC_000016.9:g.4390907C>G , CM000678.1:g.4390907C>G GRCh37
NC_000016.8:g.4330908C>G NCBI36
NG_016391.1:g.13683C>G
NG_016391.2:g.31146C>G
NG_054893.1:g.15467G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318059.8:c.291+14G>C (PAM16) MANE Select ENSP00000315693.3:n.291+14G>C
ENST00000318059.7:c.291+14G>C (PAM16) ENSP00000315693.3:n.291+14G>C
ENST00000571178.1:c.265+14G>C (PAM16)
ENST00000571941.5:c.351+14G>C (PAM16) ENSP00000460708.1:n.351+14G>C
ENST00000571986.5:c.*184+14G>C (PAM16) ENSP00000459802.1:n.*184+14G>C
ENST00000572467.5:c.3060+14G>C (CORO7-PAM16) ENSP00000460885.1:n.3060+14G>C
ENST00000573236.5:n.547+14G>C (PAM16)
ENST00000573450.5:n.424+14G>C (PAM16)
ENST00000573553.5:c.351+14G>C (PAM16) ENSP00000459955.1:n.351+14G>C
ENST00000573614.5:n.495+14G>C (PAM16)
ENST00000575334.5:c.*1586+14G>C (CORO7-PAM16) ENSP00000458607.1:n.*1586+14G>C
ENST00000575636.5:c.*184+14G>C (PAM16) ENSP00000458914.1:n.*184+14G>C
ENST00000575848.5:c.327+14G>C (PAM16) ENSP00000458412.1:n.327+14G>C
ENST00000576217.1:c.291+14G>C (PAM16) ENSP00000461047.1:n.291+14G>C
ENST00000577031.5:c.291+14G>C (PAM16) ENSP00000459113.1:n.291+14G>C
NM_001201479.1:c.3060+14G>C (CORO7-PAM16) NP_001188408.1:n.3060+14G>C
NM_016069.9:c.291+14G>C (PAM16) NP_057153.8:n.291+14G>C
NM_016069.10:c.291+14G>C (PAM16) NP_057153.8:n.291+14G>C
NM_016069.11:c.291+14G>C (PAM16) MANE Select NP_057153.8:n.291+14G>C
NM_001201479.2:c.3060+14G>C (CORO7-PAM16) NP_001188408.1:n.3060+14G>C