Canonical Allele Identifier: CA394602837

Gene: PAM16 CORO7-PAM16

Linked Data

• gnomAD v4: 16-4340981-T-A
• MyVariant Identifiers: chr16:g.4390982T>A (hg19) ; chr16:g.4340981T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340981T>A , CM000678.2:g.4340981T>A	GRCh38
NC_000016.9:g.4390982T>A , CM000678.1:g.4390982T>A	GRCh37
NC_000016.8:g.4330983T>A	NCBI36
NG_016391.1:g.13758T>A
NG_016391.2:g.31221T>A
NG_054893.1:g.15392A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.230A>T (PAM16) MANE Select	ENSP00000315693.3:p.Tyr77Phe
ENST00000318059.7:c.230A>T (PAM16)	ENSP00000315693.3:p.Tyr77Phe
ENST00000571178.1:c.204A>T (PAM16)
ENST00000571941.5:c.290A>T (PAM16)	ENSP00000460708.1:p.Tyr97Phe
ENST00000571986.5:c.*123A>T (PAM16)	ENSP00000459802.1:n.*123A>T
ENST00000572274.1:n.632A>T (CORO7-PAM16)
ENST00000572467.5:c.2999A>T (CORO7-PAM16)	ENSP00000460885.1:p.Tyr1000Phe
ENST00000573236.5:n.486A>T (PAM16)
ENST00000573450.5:n.363A>T (PAM16)
ENST00000573553.5:c.290A>T (PAM16)	ENSP00000459955.1:p.Tyr97Phe
ENST00000573614.5:n.434A>T (PAM16)
ENST00000575334.5:c.*1525A>T (CORO7-PAM16)	ENSP00000458607.1:n.*1525A>T
ENST00000575636.5:c.*123A>T (PAM16)	ENSP00000458914.1:n.*123A>T
ENST00000575848.5:c.266A>T (PAM16)	ENSP00000458412.1:p.Tyr89Phe
ENST00000576217.1:c.230A>T (PAM16)	ENSP00000461047.1:p.Tyr77Phe
ENST00000577031.5:c.230A>T (PAM16)	ENSP00000459113.1:p.Tyr77Phe
NM_001201479.1:c.2999A>T (CORO7-PAM16)	NP_001188408.1:p.Tyr1000Phe
NM_016069.9:c.230A>T (PAM16)	NP_057153.8:p.Tyr77Phe
NM_016069.10:c.230A>T (PAM16)	NP_057153.8:p.Tyr77Phe
NM_016069.11:c.230A>T (PAM16) MANE Select	NP_057153.8:p.Tyr77Phe
NM_001201479.2:c.2999A>T (CORO7-PAM16)	NP_001188408.1:p.Tyr1000Phe