Canonical Allele Identifier: CA496087612

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691751G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657848G>C , CM000678.2:g.67657848G>C	GRCh38
NC_000016.9:g.67691751G>C , CM000678.1:g.67691751G>C	GRCh37
NC_000016.8:g.66249252G>C	NCBI36
NG_042874.1:g.7968C>G
NG_054728.1:g.17930G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.878C>G	ENSP00000473313.2:p.Pro293Arg
ENST00000602780.2:n.2217C>G
ENST00000602860.6:n.2132C>G
ENST00000695641.1:n.2321C>G
ENST00000695648.1:c.1194C>G	ENSP00000512081.1:p.Pro398=
ENST00000695656.1:n.2172C>G
ENST00000695657.1:n.1530C>G
ENST00000695658.1:c.1035C>G	ENSP00000512088.1:p.Pro345=
ENST00000695659.1:c.1230C>G	ENSP00000512089.1:p.Pro410=
ENST00000695662.1:c.*691C>G	ENSP00000512091.1:n.*691C>G
ENST00000695694.1:c.1167C>G	ENSP00000512105.1:p.Pro389=
ENST00000695695.1:n.1278C>G
ENST00000695696.1:n.1259C>G
ENST00000695697.1:c.1125C>G	ENSP00000512106.1:p.Pro375=
ENST00000695698.1:n.1462C>G
ENST00000695699.1:n.1632C>G
ENST00000695709.1:n.487C>G
ENST00000695710.1:n.1846C>G
ENST00000695711.1:c.*520C>G	ENSP00000512109.1:n.*520C>G
ENST00000695712.1:c.*962C>G	ENSP00000512110.1:n.*962C>G
ENST00000695731.1:c.535C>G
ENST00000695732.1:c.651C>G	ENSP00000512125.1:p.Pro217=
ENST00000695733.1:c.791C>G	ENSP00000512126.1:p.Pro264Arg
ENST00000695734.1:c.1212C>G	ENSP00000512127.1:p.Pro404=
ENST00000219251.13:c.1203C>G	ENSP00000219251.8:p.Pro401=
ENST00000620761.6:c.1212C>G MANE Select	ENSP00000478084.1:p.Pro404=
ENST00000219251.12:c.1461C>G	ENSP00000219251.7:p.Pro487=
ENST00000393919.8:c.1470C>G	ENSP00000377496.4:p.Pro490=
ENST00000602320.1:c.1198-34C>G	ENSP00000473679.2:n.1198-34C>G
ENST00000602382.5:c.420C>G
ENST00000602622.5:n.2211C>G
ENST00000602656.1:n.476C>G
ENST00000602860.5:n.1650C>G
ENST00000620338.4:c.1470C>G	ENSP00000483117.1:p.Pro490=
ENST00000620761.4:c.1212C>G	ENSP00000478084.1:p.Pro404=
NM_001082486.1:c.1470C>G	NP_001075955.1:p.Pro490=
NM_001082487.1:c.1456-34C>G	NP_001075956.1:n.1456-34C>G
NM_022914.2:c.1461C>G	NP_075065.2:p.Pro487=
XM_005256115.2:c.1383C>G	XP_005256172.1:p.Pro461=
NM_001082486.2:c.1212C>G MANE Select	NP_001075955.2:p.Pro404=
NM_022914.3:c.1203C>G	NP_075065.3:p.Pro401=
XM_005256115.4:c.1383C>G	XP_005256172.1:p.Pro461=