Canonical Allele Identifier: CA2203260909

Gene: PAM16 CORO7-PAM16

Linked Data

• ClinVar Variation Id: 1975112
• ClinVar RCV Id: RCV002746440
• dbSNP Id: rs2053635660

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340990A>G , CM000678.2:g.4340990A>G	GRCh38
NC_000016.9:g.4390991A>G , CM000678.1:g.4390991A>G	GRCh37
NC_000016.8:g.4330992A>G	NCBI36
NG_016391.1:g.13767A>G
NG_016391.2:g.31230A>G
NG_054893.1:g.15383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.226-5T>C (PAM16) MANE Select	ENSP00000315693.3:n.226-5T>C
ENST00000318059.7:c.226-5T>C (PAM16)	ENSP00000315693.3:n.226-5T>C
ENST00000571178.1:c.200-5T>C (PAM16)
ENST00000571941.5:c.286-5T>C (PAM16)	ENSP00000460708.1:n.286-5T>C
ENST00000571986.5:c.*119-5T>C (PAM16)	ENSP00000459802.1:n.*119-5T>C
ENST00000572274.1:n.628-5T>C (CORO7-PAM16)
ENST00000572467.5:c.2995-5T>C (CORO7-PAM16)	ENSP00000460885.1:n.2995-5T>C
ENST00000573236.5:n.482-5T>C (PAM16)
ENST00000573450.5:n.359-5T>C (PAM16)
ENST00000573553.5:c.286-5T>C (PAM16)	ENSP00000459955.1:n.286-5T>C
ENST00000573614.5:n.430-5T>C (PAM16)
ENST00000575334.5:c.*1521-5T>C (CORO7-PAM16)	ENSP00000458607.1:n.*1521-5T>C
ENST00000575636.5:c.*119-5T>C (PAM16)	ENSP00000458914.1:n.*119-5T>C
ENST00000575848.5:c.262-5T>C (PAM16)	ENSP00000458412.1:n.262-5T>C
ENST00000576217.1:c.226-5T>C (PAM16)	ENSP00000461047.1:n.226-5T>C
ENST00000577031.5:c.226-5T>C (PAM16)	ENSP00000459113.1:n.226-5T>C
NM_001201479.1:c.2995-5T>C (CORO7-PAM16)	NP_001188408.1:n.2995-5T>C
NM_016069.9:c.226-5T>C (PAM16)	NP_057153.8:n.226-5T>C
NM_016069.10:c.226-5T>C (PAM16)	NP_057153.8:n.226-5T>C
NM_016069.11:c.226-5T>C (PAM16) MANE Select	NP_057153.8:n.226-5T>C
NM_001201479.2:c.2995-5T>C (CORO7-PAM16)	NP_001188408.1:n.2995-5T>C