Canonical Allele Identifier: CA394602841

Gene: PAM16 CORO7-PAM16

Linked Data

• dbSNP Id: rs1481223880
• gnomAD v2: 16-4390983-A-G
• gnomAD v4: 16-4340982-A-G
• MyVariant Identifiers: chr16:g.4390983A>G (hg19) ; chr16:g.4340982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340982A>G , CM000678.2:g.4340982A>G	GRCh38
NC_000016.9:g.4390983A>G , CM000678.1:g.4390983A>G	GRCh37
NC_000016.8:g.4330984A>G	NCBI36
NG_016391.1:g.13759A>G
NG_016391.2:g.31222A>G
NG_054893.1:g.15391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.229T>C (PAM16) MANE Select	ENSP00000315693.3:p.Tyr77His
ENST00000318059.7:c.229T>C (PAM16)	ENSP00000315693.3:p.Tyr77His
ENST00000571178.1:c.203T>C (PAM16)
ENST00000571941.5:c.289T>C (PAM16)	ENSP00000460708.1:p.Tyr97His
ENST00000571986.5:c.*122T>C (PAM16)	ENSP00000459802.1:n.*122T>C
ENST00000572274.1:n.631T>C (CORO7-PAM16)
ENST00000572467.5:c.2998T>C (CORO7-PAM16)	ENSP00000460885.1:p.Tyr1000His
ENST00000573236.5:n.485T>C (PAM16)
ENST00000573450.5:n.362T>C (PAM16)
ENST00000573553.5:c.289T>C (PAM16)	ENSP00000459955.1:p.Tyr97His
ENST00000573614.5:n.433T>C (PAM16)
ENST00000575334.5:c.*1524T>C (CORO7-PAM16)	ENSP00000458607.1:n.*1524T>C
ENST00000575636.5:c.*122T>C (PAM16)	ENSP00000458914.1:n.*122T>C
ENST00000575848.5:c.265T>C (PAM16)	ENSP00000458412.1:p.Tyr89His
ENST00000576217.1:c.229T>C (PAM16)	ENSP00000461047.1:p.Tyr77His
ENST00000577031.5:c.229T>C (PAM16)	ENSP00000459113.1:p.Tyr77His
NM_001201479.1:c.2998T>C (CORO7-PAM16)	NP_001188408.1:p.Tyr1000His
NM_016069.9:c.229T>C (PAM16)	NP_057153.8:p.Tyr77His
NM_016069.10:c.229T>C (PAM16)	NP_057153.8:p.Tyr77His
NM_016069.11:c.229T>C (PAM16) MANE Select	NP_057153.8:p.Tyr77His
NM_001201479.2:c.2998T>C (CORO7-PAM16)	NP_001188408.1:p.Tyr1000His