Canonical Allele Identifier: CA14408870

Gene: PITPNC1

Linked Data

• dbSNP Id: rs2017854
• gnomAD v2: 17-65488021-G-C
• gnomAD v3: 17-67491905-G-C
• gnomAD v4: 17-67491905-G-C
• MyVariant Identifiers: chr17:g.65488021G>C (hg19) ; chr17:g.67491905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67491905G>C , CM000679.2:g.67491905G>C	GRCh38
NC_000017.10:g.65488021G>C , CM000679.1:g.65488021G>C	GRCh37
NC_000017.9:g.62918483G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000580974.6:c.49-40897G>C	ENSP00000463626.1:n.49-40897G>C
ENST00000581322.6:c.49-40897G>C MANE Select	ENSP00000464006.1:n.49-40897G>C
ENST00000299954.13:c.49-40897G>C	ENSP00000299954.10:n.49-40897G>C
ENST00000580974.5:c.49-40897G>C	ENSP00000463626.1:n.49-40897G>C
ENST00000581322.5:c.49-40897G>C	ENSP00000464006.1:n.49-40897G>C
ENST00000584471.5:c.-21-40897G>C	ENSP00000464584.1:n.-21-40897G>C
ENST00000584554.1:c.-22+32113G>C	ENSP00000464364.1:n.-22+32113G>C
NM_012417.3:c.49-40897G>C	NP_036549.2:n.49-40897G>C
NM_181671.2:c.49-40897G>C	NP_858057.1:n.49-40897G>C
XM_005257216.2:c.-21-40897G>C	XP_005257273.1:n.-21-40897G>C
XM_017024442.1:c.18+34082G>C	XP_016879931.1:n.18+34082G>C
XM_017024443.1:c.18+34082G>C	XP_016879932.1:n.18+34082G>C
XM_017024444.1:c.-21-40897G>C	XP_016879933.1:n.-21-40897G>C
NM_012417.4:c.49-40897G>C MANE Select	NP_036549.2:n.49-40897G>C
NM_181671.3:c.49-40897G>C	NP_858057.1:n.49-40897G>C