Canonical Allele Identifier: CA620492752

Gene: PAM16 CORO7-PAM16

Linked Data

• dbSNP Id: rs747753092
• gnomAD v2: 16-4390917-T-G
• gnomAD v4: 16-4340916-T-G
• MyVariant Identifiers: chr16:g.4390917T>G (hg19) ; chr16:g.4340916T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340916T>G , CM000678.2:g.4340916T>G	GRCh38
NC_000016.9:g.4390917T>G , CM000678.1:g.4390917T>G	GRCh37
NC_000016.8:g.4330918T>G	NCBI36
NG_016391.1:g.13693T>G
NG_016391.2:g.31156T>G
NG_054893.1:g.15457A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.291+4A>C (PAM16) MANE Select	ENSP00000315693.3:n.291+4A>C
ENST00000318059.7:c.291+4A>C (PAM16)	ENSP00000315693.3:n.291+4A>C
ENST00000571178.1:c.265+4A>C (PAM16)
ENST00000571941.5:c.351+4A>C (PAM16)	ENSP00000460708.1:n.351+4A>C
ENST00000571986.5:c.*184+4A>C (PAM16)	ENSP00000459802.1:n.*184+4A>C
ENST00000572467.5:c.3060+4A>C (CORO7-PAM16)	ENSP00000460885.1:n.3060+4A>C
ENST00000573236.5:n.547+4A>C (PAM16)
ENST00000573450.5:n.424+4A>C (PAM16)
ENST00000573553.5:c.351+4A>C (PAM16)	ENSP00000459955.1:n.351+4A>C
ENST00000573614.5:n.495+4A>C (PAM16)
ENST00000575334.5:c.*1586+4A>C (CORO7-PAM16)	ENSP00000458607.1:n.*1586+4A>C
ENST00000575636.5:c.*184+4A>C (PAM16)	ENSP00000458914.1:n.*184+4A>C
ENST00000575848.5:c.327+4A>C (PAM16)	ENSP00000458412.1:n.327+4A>C
ENST00000576217.1:c.291+4A>C (PAM16)	ENSP00000461047.1:n.291+4A>C
ENST00000577031.5:c.291+4A>C (PAM16)	ENSP00000459113.1:n.291+4A>C
NM_001201479.1:c.3060+4A>C (CORO7-PAM16)	NP_001188408.1:n.3060+4A>C
NM_016069.9:c.291+4A>C (PAM16)	NP_057153.8:n.291+4A>C
NM_016069.10:c.291+4A>C (PAM16)	NP_057153.8:n.291+4A>C
NM_016069.11:c.291+4A>C (PAM16) MANE Select	NP_057153.8:n.291+4A>C
NM_001201479.2:c.3060+4A>C (CORO7-PAM16)	NP_001188408.1:n.3060+4A>C