Canonical Allele Identifier: CA493300639

Gene: PAM16 CORO7-PAM16

Linked Data

• gnomAD v4: 16-4340929-C-A
• MyVariant Identifiers: chr16:g.4390930C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340929C>A , CM000678.2:g.4340929C>A	GRCh38
NC_000016.9:g.4390930C>A , CM000678.1:g.4390930C>A	GRCh37
NC_000016.8:g.4330931C>A	NCBI36
NG_016391.1:g.13706C>A
NG_016391.2:g.31169C>A
NG_054893.1:g.15444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.282G>T (PAM16) MANE Select	ENSP00000315693.3:p.Leu94=
ENST00000318059.7:c.282G>T (PAM16)	ENSP00000315693.3:p.Leu94=
ENST00000571178.1:c.256G>T (PAM16)
ENST00000571941.5:c.342G>T (PAM16)	ENSP00000460708.1:p.Leu114=
ENST00000571986.5:c.*175G>T (PAM16)	ENSP00000459802.1:n.*175G>T
ENST00000572467.5:c.3051G>T (CORO7-PAM16)	ENSP00000460885.1:p.Leu1017=
ENST00000573236.5:n.538G>T (PAM16)
ENST00000573450.5:n.415G>T (PAM16)
ENST00000573553.5:c.342G>T (PAM16)	ENSP00000459955.1:p.Leu114=
ENST00000573614.5:n.486G>T (PAM16)
ENST00000575334.5:c.*1577G>T (CORO7-PAM16)	ENSP00000458607.1:n.*1577G>T
ENST00000575636.5:c.*175G>T (PAM16)	ENSP00000458914.1:n.*175G>T
ENST00000575848.5:c.318G>T (PAM16)	ENSP00000458412.1:p.Leu106=
ENST00000576217.1:c.282G>T (PAM16)	ENSP00000461047.1:p.Leu94=
ENST00000577031.5:c.282G>T (PAM16)	ENSP00000459113.1:p.Leu94=
NM_001201479.1:c.3051G>T (CORO7-PAM16)	NP_001188408.1:p.Leu1017=
NM_016069.9:c.282G>T (PAM16)	NP_057153.8:p.Leu94=
NM_016069.10:c.282G>T (PAM16)	NP_057153.8:p.Leu94=
NM_016069.11:c.282G>T (PAM16) MANE Select	NP_057153.8:p.Leu94=
NM_001201479.2:c.3051G>T (CORO7-PAM16)	NP_001188408.1:p.Leu1017=